bluuebunny/crossref_metadata_2025 huggingface dataset:
A prospective study of “undiagnosed” isolated myelopathy: I. Case selection and clinical features
Authors: Blumhardt L.D. , Sandercock P.A.G. , Moore A.P. , Woodrow J. , Findlay G.
Published: January 2011

We aimed to carry out a study of isolated, unexplained myelopathy which avoided as far as possible selection and referral bias. We used a prospective design with case ascertainment from both neurological and neurosurgical referrals. We wanted to establish the sensitivity, predictive value and possible redundancy of currently available tests as assessed by the proportion of such patients who finally developed clinically definite multiple sclerosis at follow up. Although MRI scanning of the spinal cord is now the investigation of choice for myelopathy, the case ascertainment for the present studies was completed, and follow‐up commenced, before MRI became available to patients in our catchment region. We believe that this was an important factor in the ascertainment of a representative sample of undiagnosed myelopathies. Of 2104 patients having myelography in a 36‐month period, 473 had signs of a myelopathy without lower motor neurone involvement Sixty‐nine of these 473 patients (15%, 95% CI 11.8–18.2) eventually satisfied the entry criteria for the prospective trial. Fourteen of the 69 patients (20%) presented with acute or subacute cord syndromes, while 55 (80%) had chronic symptoms of more than 3 months duration. Approximately two‐thirds of the chronic cases were progressive and one‐third relapsing and remitting. Overall there was a female predominance (3:2) and a significant excess of HLA‐DR2 antigen compared with a healthy control population (p < 0.0001). In this series the patients with chronic unexplained myelopathy were younger and had shorter symptom durations (mean 46.5 months) and less disability (mean EDSS 3.0) than cases in other comparable published series. The neurological findings, sex distribution and HLA characteristics were similar to those found in patients with clinically definite MS.
High level of anticardiolipin antibodies is an unusual finding in an unselected stroke population
Authors: Dahle C. , Vrethem M. , Olsson J‐E. , Ernerudh J.
Published: January 2011

Anticardiolipin antibodies (ACA) were analysed in 502 consecutive patients admitted to our stroke unit Elevated ACA levels ≥11 units) were found in 20 of 396 patients (5%) with ischemic stroke and TIA, in none of 42 patients with cerebral haematomas and in five of 64 patients (8%) with other diagnoses than stroke. There were no statistically significant differences in occurrence of ACA in these groups. Markedly elevated ACA levels (> 20 units) were found in nine of the 396 patients (2%) with TIA/ischemic stroke. The frequency of ACA was higher in the age group 40–50 years (15%) than in the age group 50–90 years (3.6–6.0%). Re‐examination in 18 of the 20 patients with ischemic stroke and elevated ACA levels after 26–395 days (mean 100 days) showed that in 10 patients ACA levels were lower (difference ≥ 6 units = 2 SD), compared to the initial value, whereas eight patients had unchanged ACA levels. The occurrence of previous deep venous thrombosis was significantly more common in patients with elevated ACA levels, otherwise there were no differences concerning earlier stroke, risk factor analysis or other laboratory parameters between patients with and without elevated ACA levels. In conclusion, we found elevated ACA levels in patients with ischemic stroke at a rather low prevalence as compared to most previous studies. The clinical relevance of ACA is uncertain, especially in patients with multiple risk factors. We recommend screening for ACA only in stroke patients < 50 years of age, or when the antiphospholipid syndrome is suspected.
A family with mild clinical manifestations of spinocerebellar ataxia type 1 (SCA1): correlation with smaller CAG repeats
Authors: Kameya T. , Abe K. , Aoki M. , Itoyama Y.
Published: January 2011

Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat. We analyzed CAG repeat expansion in one Japanese SCA1 family with mild clinical manifestations. Clinically, this SCA1 family showed less frequent nystagmus (p = 0.045, Fisher's exact‐test) in comparison with duration‐matched control patients with larger numbers of CAG repeats (48.4 ± 4.2, p < 0.01). Some patients showed no other signs than cerebellar ataxia in the earlier stage. All six patients had expanded alleles for SCA1 with relatively small CAG repeats (41.5 ± 1.0, mean ± SD), which may be related to the mild clinical symptoms of the disease. The present results also suggest that slow saccades and amyotrophy are constantly observed in 30–40% of SCA1 patients without regard to the size of CAG repeats, while the frequency of nystagmus decreases with reduction in size of the CAG expansion.
Chorea and high antiphospholipid antibodies: probable primary antiphospholipid syndrome
Authors: Al‐Zahrani Ali S. , Bohlega Saeed A.
Published: January 2011

A young man presented with generalized chorea as the first manifestation of probable primary antiphospholipid syndrome. He was well till 3 months before admission when he started to have involuntary, choreiform movements involving all extremities, the head and the bulbar muscles. Apart from these movements his physical examination was otherwise unremarkable. Laboratory investigations revealed mild thrombocytopenia, high partial thromboplastin time (PTT) only partially corrected by the addition of normal plasma, false positive syphilis serology, weakly positive antinuclear antibody and a high level of IgG anticardiolipin antibodies. Brain magnetic resonance imaging (MRI) showed multiple scattered small areas of high signal intensity on T2 weighted image in the area of centrum semiovale bilaterally. The patient was started on aspirin and prednisone with rapid symptomatic improvement. Despite the difficulty in proving the association between chorea and the high antiphospholipid antibodies, chorea appears in this case to be the initial symptom of primary antiphospholipid syndrome and we suggest screening for antiphospholipid antibodies in unexplained cases of chorea.
Radiation‐induced injury to the carotid artery: a longitudinal study
Authors: Griewing B. , Guo Y. , Doherty C. , Feyerabend M. , Wessel K. , Kessler Ch.
Published: January 2011

Therapeutic radiation can lead to damage of arterial walls. In the present investigation, we studied prospectively 16 patients without pre‐existing vascular disease (13 males, three females; mean age = 59.75 ± 11.9 years) who had undergone surgery and post‐operative radiation therapy (cumulative dose = 56.2 ± 10.2 Gy) for the treatment of carcinoma of the head and neck. The carotid arteries were examined every 3 months for 19.9 ± 8.7 months using Doppler ultrasound and B‐mode sonography. The thickness of the arterial walls was determined using an index (outer:inner mean arterial wall), and it was compared to a group of age‐matched control subjects (n = 16) with healthy arteries. The index of the common carotid artery (CCA) was initially 1.14 ± 0.04 in both the right and left CCA in the radiation‐treated subjects. By the end of the study, this index had increased significantly to 1.37 ˙ 0.14 in both right and left CCA in the radiation‐treated subjects (p < 0.01). There was a significant difference in arterial wall thickness between the radiation‐treated and control subjects (p < 0.001). Frequent and extensive smooth‐surfaced plaques indicative of arterial thickening in the area of the common carotid and internal carotid arteries were seen in the irradiated patients. Four patients developed > 50% atherosclerotic stenosis of the internal carotid artery. These data suggest that arterial damage may occur following radiation treatment of the head and neck area. Modification of radiation therapy for the post‐surgical treatment of head tumors coupled with the continuous monitoring of the carotid arteries using B‐mode sonography could minimize this arterial damage.
Frequency and relevance of IgM intrathecal synthesis in multiple sclerosis
Authors: Reboul J. , Lambin P. , Gervais A. , Gaillard O. , Delattre J. , Bricaire F. , Lyon‐Caen O. , Schuller E.
Published: January 2011

Using a new ELISA method we have measured the IgM concentration in the serum and the cerebrospinal fluid CSF from 110 neurological patients. Among there, 41 had multiple sclerosis (MS), 48 other inflammatory diseases (OID), including 30 AIDS, and 21 non‐inflammatory neurological diseases (NID). A highly significant correlation was established between results with native IgM and the dithiothreitol reduced IgM. An intrathecal synthesis (ITS) of IgM was detected using the CSF IgM/CSF albumin ratio, the IgM index and a quantitative formula in 33 patients: nine MS, 23 OID (including 18 AIDS) and one NID. The frequency of IgM ITS was 22% in MS patients, 48% in the OID (60% in AIDS) and 5% in the NID groups. This ITS was not impaired by an increase in serum IgM concentration or by a blood–CSF barrier damage. These facts confirm that intrathecal immunity is not a “steady‐state” related to the general immunity but a specific response restricted to the central nervous system. Conversely, CSF IgM increase and IgM ITS were closely related (p < 10−6). In addition, IgM ITS and IgG ITS were found to be highly correlated in OID, especially in AIDS patients: such correlation was not observed in the MS group. No significant correlations were observed between IgM ITS and any of the clinical parameters in MS patients. These results suggest the probable specificity of IgM ITS in MS patients.
Long‐term beneficial effects of adrenal medullary autografts supported by nerve growth factor in Parkinson's disease
Authors: Sydow O. , Hansson P. , Young D. , Meyerson B. , Backlund E‐O. , Ebendal T. , Farnebo L.O. , Freedman R. , Hamberger B. , Hoffer B. , Seiger Å. , Strömberq I. , Olson L.
Published: January 2011

Parkinson's disease has been the object of several therapeutic strategies based upon replacement of the degenerating dopaminergic neurons. Adrenal medullary transplants were tried initially, because of the biochemical relationship between chromaffin cells of the medulla and dopaminergic neurons of the substantia nigra. Compared to transplant of fetal neurons, autologous grafts of adrenal medullary tissue has the advantage of using a readily available source of tissue without the problems of immunosuppression. However, these cells have not proven to be as effective as fetal neurons, probably because they do not fully differentiate into neurons. In animal models, brief treatment with nerve growth factor can facilitate such differentiation. This study is a clinical evaluation of the efficacy of adrenal medullary cell transplantation, combined with nerve growth factor infusion.

Two patients were selected who were moderately to severely affected (Hoehn–Yahr stage 2 in on‐phase and stage 4 in off‐phase). After adrenalectomy, small pieces of medulla were prepared and implanted stereotactically into the dorsal putamen on one side of the brain. A catheter filled with mouse beta‐nerve growth factor (NGF) was placed close to the grafts. Infusion of NGF was continued for one month.

Despite a progressively deteriorating course prior to surgery, both patients showed improvement on the rating scales postoperatively. There was also significant improvement in timed motor tests. Motor readiness evoked potentials showed increased voltage over the operated hemisphere.

The study points to methods and feasibility of supplying nerve growth factor intraparenchymally to the human brain. Possible implications with respect to other growth factors, particularly Glial cell‐line Derived Neurotrophic factor (GDNF) are discussed.
A prospective study of depression in French patients with Parkinson's disease. The Depar study
Authors: Davous P. , Auquier P. , Grignon S. , Neukirch H.C.
Published: January 2011

To investigate the prevalence and symptomatology of depression in Parkinson's disease (PD), we have studied 506 unselected patients attending the neurology services in French general hospitals during a 5 month period defined for prospective inclusion. 246 patients (48.6%) were suspected of depression according to different methods of evaluation and 168 (33.2%) were defined as definite or probable depression. According to the Montgomery and Asberg scale, 46 cases (9%) had a severity score suggestive of major depression. As a function of the cut‐off score defined for severity, these patients represented from 23.2 to 43.7% of the depressive population with PD. There was no significant difference between depressed and non depressed PD patients as a function of the patient's current age or age at onset of PD. A significantly higher rate of depression was found among women with PD. A past history of depression was a risk factor for mood disorder after onset of PD. The severely depressed patients had a significantly longer duration of PD and a higher score of cognitive impairment than mildly or moderately depressed and non depressed patients with PD. Depressed patients had a significantly more advanced stage of disability than non‐depressed patients with PD.
Candida parapsilosis vertebral osteomyelitis
Authors: De la Meilleure G.E.H. , Marchau M.M.B.
Published: January 2011

A case of culture verified Candida parapsilosis lumbar spondylodiscitis, with infectious involvement of an aortic prosthetic graft, presented with a lumbar radicular pain syndrome. Only 33 Candida infections of the spine are described in the literature. Candida parapsilosis was cultured in three cases. Considering the poor general condition of the patient, a conservative treatment with bedrest, casting and amphotericin B, hydrocortisone and itraconazol was given. The patient died 28 months after onset from intercurrent pneumonia.
Decision analysis in the clinical neurosciences: a systematic review of the literature
Authors: Dippel D.W.J. , Habbema J.D.F.
Published: January 2011

Clinical decision analysis can be a useful scientific tool for individual patient management, for planning of clinical research and for reaching consensus about clinical problems. We systematically reviewed the decision analytic studies in the clinical neurosciences that were published between 1975 and July 1994. All studies were assessed on aspects of clinical applicability: presence of case and context description, completeness of the analysed strategies from a clinical point of view, extendibility of the analyses to different patient profiles, and up‐to‐date‐ness. Fifty‐nine decision analyses of twenty‐eight different clinical problems were identified. Twenty‐eight analyses were based on the theory of subjective expected utility, twelve on cost‐effectiveness analysis. Four studies used ROC analysis, and fifteen were risk‐, or risk‐benefit analyses. At least six studies could have been improved by more elaborately disclosing the context of the clinical problem that was addressed. In eleven studies, the effect of different, yet plausible assumptions was not explored, and in eighteen studies the reader was not informed how to extend the results of the analysis to patients with (slightly) different clinical characterisitics. All studies had, by nature, the potential to promote insight into the clinical problem and focus the discussion on clinically important aspects, and gave clinically useful advice. We conclude that clinical decision analysis, as an explicit, quantitative approach to uncertainty in decision making in the clinical neurosciences will fulfill a growing need in the near future.
The prevalence and clinical correlates of apathy and irritability in Alzheimer's disease
Authors: Starkstein S. E. , Migliorelli R. , Manes F. , Tesón A. , Petracca G. , Chemerinski E. , Sabe L. , Leiguarda R.
Published: January 2011

We examined the prevalence and correlates of apathy and irritability in a consecutive series of 101 patients with probable Alzheimer's disease (AD). Based on clinical criteria, 46 (46%) patients had apathy, and 13 (13%) patients had irritability. Apathy was significantly associated with more severe impairments in activities of daily living, significantly more severe extrapyramidal signs, and a significantly higher frequency of both major depression and dysthymia. Patients with irritability had significantly more severe impairments in activities of daily living and significantly higher depression and anosognosia scores. On the other hand, neither apathy nor irritability were significantly associated with deficits in specific cognitive domains.
Movement disorders in ischemic stroke: clinical study of 22 patients
Authors: D'Olhaberriague L. , Arboix A. , Martí‐Vilalta J.L. , Moral A. , Massons J.
Published: January 2011

Movement disorders (bemichorea‐hemiballismus, hemidystonia and isolated tremor) are an uncommon clinical manifestation in ischemic stroke (IS), and their anatomical basis is poorly understood. We analyzed the clinical and neuroimaging characteristics of 22 consecutive patients who bad movement disorders associated with cerebral infarction (MDCI), studied at four institutions over 8 years. In one institution (from the La Alianza‐Central Hospital of Barcelona Stroke Registry) nine patients with MDCI were identified among 1099 consecutive first ever stroke patients (0.8%) (908 with IS, 1%).

Fifteen out of 22 patients (68%) had hemichorea‐hemiballismus, five (23%) hemidystonia and two (9%) isolated tremor. MDCI were more often left sided (n = 15, 68%), being bilateral in one patient (4.5%). A lesion was found on neuroimaging (CT and/or MRI) in 15 patients (68%), in the territory of the posterior cerebral artery (n = 8) and middle cerebral artery (six deep and one superficial). The most commonly involved structure was the thalamus (n = 8, 36.5%). IS subtypes were; presumed lacunar infarcts in 14 patients (64%), atherothrombotic infarcts in two patients (9%), cardioembolic infarcts in two patients (9%) and infarcts of unknown etiology in four patients (18%).

Hemichorea‐hemiballismus was the most common type of MDCI in our study, usually being the result of a thalamic infarction. The thalamus was the most frequently damaged structure underlying all types of MDCI. There was a striking propensity of MDCI which resulted from nondominant deep hemispheric small vessel infarctions.
Cerebrospinal fluid‐filtration reduces TNF alpha in bacterial meningitis‐CSF
Authors: Pfausler B. , Grubwieser G. , Bösch S. , Vollert H. , Herald M. , Schmutzhard E.
Published: January 2011

A 37 year old male was admitted with the diagnosis of bacterial meningitis. Pneumococci were seen in the Gram stain of the cerebrospinal fluid. The clinical condition did not suggest severely raised intracranial pressure, there were no localizing signs and symptoms. CSF was turpid, with 20.100/3/mm3, mainly polymorphonuclear cells. Tumor necrosis factor alpha in CSp was greatly increased with 813 pg/ml. Parallel to the application of intravenous Penicillin G a CSF filtration was carried out. Within 214 h 225 ml CSF were filtrated through a Pall‐filter, using a bidirectional pump. Cell count dropped to 720/3 cells/mm3, TNF‐alpha to 39 pg/ml. The clinical course was uneventful, on day 12 the patient could be discharged without sequelae.

CSF filtration may be a highly effective method to reduce from the CSF pathogenetically important cytokines, such as TNF‐alpha, being responsible for intrathecal/meningeal inflammatory processes and triggered by cell‐wall components of bacteria, e.g. pneumococci.
A case of deaf–mutism as an expression of pure word deafness: neuroimaging and electrophysiological data
Authors: Arias M. , Requena I. , Ventura M. , Pereiro I. , Castro A. , Alvarez A.
Published: January 2011

We report a case of pure word deafness, clinically expressed as deaf–mutism in a 17‐year‐old girl, who was affected from encephalitis when she was 18 months old and hadn't acquired language skills. Actually, physical examination revealed buccolingual apraxia and absence of spontaneous speech, auditory comprehension, repetition and denomination, whereas perception of non‐verbal sounds was preserved. The seven waves of brainstem auditory evoked responses (BAER) were present with normal latencies; middle latency responses (MLR) were also normal. Magnetic resonance imaging (MRI) showed bilateral temporoparietal lesions. This case proves that lesions which may give rise to word deafness, when they occur in prelingual age, can determine a peculiar deafmutism clinical picture.
Sumatriptan has no clinically relevant effect in the treatment of episodic tension‐type headache
Authors: Brennum J. , Brinck T. , Schriver L. , Wanscher B. , Sørensen P. Soelberg , Tfelt‐Hansen P. , Olesen J.
Published: January 2011

In a randomized, multi‐centre, double‐blind, placebo‐controlled, parallel group study, the efficacy of 100 mg oral sumatriptan was compared with that of placebo in the treatment of episodic tension‐type headache. The patients were recruited from the general population in the vicinity of the study centres, by randomly mailed invitations. One or more attacks were treated with sumatriptan by 54 patients and with placebo by 57 patients. A seven‐point verbal rating scale was used for hourly assessments of headache relief, 1–4 h after treatment According to the predefined primary end‐point of the study, which was moderate or complete relief of headache 2 and 4 h after treatment of the first attack, there was no significant difference between sumatriptan and placebo treatment Sumatriptan did perform statistically significantly better than placebo at some time points, but the effect was not considered clinically relevant We conclude that sumatriptan should not be used in treatment of tension‐type headache. The marked difference in effect of sumatriptan in treatment of migraine and tension‐type headache argues against the idea that migraine and tension‐type headache are part of a continuum of headache disorders.
The levodopa dose‐sparing capacity of pergolide compared with that of bromocriptine in an open‐label, crossover study
Authors: Boas J. , Worm‐Petersen J. , Dupont E. , Mikkelsen B. , Wermuth L
Published: January 2011

The levodopa dose‐sparing capacity of pergolide and bromocriptine, along with the maximum ability to improve activity of daily living and motor scores, were compared in 33 patients with idiopathic Parkinson's disease (Hoehn‐Yahr stage 2–4) in a 24‐week, open‐label, crossover study. Patients received one dopamine agonist for 12 weeks and then were crossed over to the other for 12 weeks (8 weeks, titration; 4 weeks, steady state in each period). The maximum doses allowed were pergolide 5 mg/day and bromocriptine 50 mg/day. As patients' clinical response to a dopamine agonist increased, the levodopa dose was decreased. Twenty‐seven patients completed the study. No serious adverse events or clinically significant changes in vital signs or laboratory tests were observed. The mean doses of bromocriptine and pergolide at the end of titration were 21.7 ± 5.6 mg (bromocriptine data for the two groups combined) and 3.6 ± 1.1 mg (pergolide data for the two groups combined), respectively. The mean levodopa dose was reduced 83% with bromocriptine as the first agent and increased 28.0% with bromocriptine as the second agent The mean levodopa dose was reduced 31.4% with pergolide as the first agent and 15.5% with pergolide as the second agent Levodopa could not be discontinued in any of the patients. Statistically significant levodopa dose‐sparing capacity and considerable clinical benefit were achieved with both agonists; however, the results were more favorable with pergolide.
Mediterranean spotted fever with central and peripheral neurological complications
Authors: de la Blanca M.A. Ibañez Perez , Rodriguez M.A. , Sanchez J.C. , Arrebola J.P. , Serrano P. , Jimenez‐Alonso J.
Published: January 2011

We report an unusual case of Mediterranean spotted fever in a 62‐year‐old woman with encephalo‐myelo‐meningo‐polyneuritis. Cerebral dysfunction reverted completely in a few days, but a slight spastic paraparesis remains as a sequel.
Progressive encephalomyelitis with rigidity, diabetes mellitus and retinopathy: an anti‐GAD syndrome
Authors: Cabre P. , Smadja D. , Humbel R.L , Merle H. , Vernant J.C.
Published: January 2011

A 59‐year‐old woman with a past history of pigmentary retinopathy developed progressive encephalomyelitis with rigidity (PEW R) characterized clinically by cerebellar ataxia, pyramidal signs and stiffness with painful muscle spasms. At the same period, retinopathy strikingly worsened. Her serum contained antibodies against glutamic acid decarboxylase (GAD). She developed diabetes mellitus under corticotherapy, which was inefficient Neurologic signs dramatically improved with diazepam and high dose of intravenous immunoglobulin (i.v. Ig). Anti‐GAD antibodies have been described in stiff man syndrome, but in only one previous case of PEWR. Presence of such autoantibodies in serum and improvement following l.v. IgG infusion strongly suggest an autoimmune mechanism involving, in our case central nervous system, pancreas and probably retina.
Incidence and case‐fatality rates of stroke in Burgundy (France). Comparison between a rural (Avallon) and an urban (Dijon) population, between 1989 and 1993
Authors: Lemesle M. , Giroud M. , Menassa M. , Milan C. , Dumas R.
Published: January 2011

The decline of mortality from stroke observed in some countries may result from a fall in incidence or a decrease in case‐fatality rates from stroke. The present study was conducted to evaluate the role of geographical parameters, comparing an urban and a rural population in Burgundy, France to look for differences in risk factor distribution. The study was a prospective, and complete case‐ascertainment in a population‐based survey. It was conducted on a well‐defined population‐based survey in a rural town (Avallon 8900 subjects) and an urban town (Dijon 140,000 subjects) in the area of Burgundy (France), from 1989 through 1993. All first‐ever stroke events occurring in these two populations, whatever the age, were registered by a special six‐level case‐registration system. 1118 strokes cases were identified, 986 in Dijon and 132 in Avallon. In the rural area (Avallon), the incidence and case‐fatality rates at 28 days were higher than those of Dijon. The higher incidence rate in Avallon may be explained by the fact that there was a higher rate of non‐treated hypertension. The higher case‐fatality rate in Avallon may be explained by a higher rate of hemorrhagic strokes and of comatous patients. Rural and urban populations perhaps have not the same risk factors for stroke. The differences observed in incidence and case‐fatality rates should lead to a survey on the risk factors and their diagnosis and treatment between rural and urban populations.
Ryanodine receptor antibodies are associated with severe myasthenia gravis
Authors: Skeie G.O. , Bartoccioni E. , Evoli A. , Aarli J.A. , Gilhus N.E.
Published: January 2011

Sera from 32 thymoma patients, 29 of them with myasthenia gravis (MG), were tested for the presence of circulating antibodies to the ryanodine receptor (RyR) in Western blot RyR is a channel protein essential for the excitation‐contraction coupling in skeletal muscle. MG severity was scored according to the Osserman classification during 1–17 years of follow‐up (mean 7 years). Fifteen patients (14 MG and 1 non‐MG) were RyR‐antibody positive. RyR‐positive patients had a significantly higher frequency of invasive thymomas (p = 0.01), and also a more severe MG than RyR‐antibody negative patients (p = 0.04). The use of immunosuppressive drugs at latest follow‐up was more frequent in RyR‐antibody positive than in RyR‐antibody negative patients (p = 0.02). Thus the presence of RyR‐antibodies in thymoma patients is associated with a more severe disease and can be used as a prognostic marker.
Multiple brain abscesses and intracerebral hemorrhage caused by Bacillus Cereus in a case of acute lymphatic leukemia
Authors: Strittmatter M. , Hamann G. , Sahin U. , Feiden W. , Kohl K. , Schimrigk K.
Published: January 2011

We report a first case of a 19 year old female suffering from an acute lymphatic leukemia, which developed shortly after the initiation of a chemotherapy an intracerebral hemorrhage and fatal multiple brain abscesses caused by Bacillus cereus. There is much evidence that Bacillus cereus in immunocompromised patients leads to a localized, necrotizing tissue infection due to the production of potent toxins and usually results in rapid and fulminant tissue destruction. Bacillus species has an special affinity for the CNS mediated by phospholipase C, which tends to associate with the lipid membranes of the brain.
ERP and neurotransmitters
Authors: Hegerl U. , Juckel G. , Möller H.‐J.
Published: January 2011

The increasing knowledge concerning anatomical structures and cellular processes underlying event‐related potentials (ERP) and methodological advances in ERP data analysis (e.g. dipole source analysis) begins to bridge the gap between ERP and neurochemical aspects. Several recent reports are summarized suggesting that quite specific relationships may exist between certain ERP‐parameters and central cholinergic, noradrenergic and especially serotonergic function. Reliable indicators of the serotonin system are urgently needed because of its role in pathogenetic concepts and as target of pharmacotherapeutic interventions in psychiatric and neurologic disorders. Converging arguments from preclinical and clinical studies are presented supporting the hypothesis that the dependence of the auditory evoked N1/P2‐response on stimulus intensity (loudness) is regulated by the level of central serotonergic neurotransmission. Dipole source analysis represents an important methodological advance in this context, because N1/P2‐subcomponents, generated by different cortical structures with different serotonergic innervations, can be separated. A pronounced intensity dependence of the evoked activity of primary auditory cortices is supposed to indicate a low central serotonergic neurotransmission and vice versa. This intensity dependence is shown to be a parameter with clinical value because subgroups of patients with a serotonergic dysfunction can be identified and can be treated more specifically.
Human herpes virus 6 (HHV‐6) in amyotrophic lateral sclerosis: a polymerase chain reaction (PCR) study
Authors: Sola P. , Merelli E. , Levani M. , Giovannetti R. , Barozzi P.
Published: January 2011

Human herpes virus 6 (HHV‐6) is a new member of the herpes virus family, able to remain integrated in the human genome after primary infection and to transactivate the expression of retroviral genes. It has been recognized to be lymphotropic and neurotropic, although its possible role in neurological diseases is largely unknown. Up to now HHV‐6 infection has been studied mainly in inflammatory and disimmune diseases of the central nervous system. Taking into account the viral theories on the origin of amyotrophic lateral sclerosis (ALS) and the biological properties of HHV‐6, we investigated the presence of viral specific sequences in the total DNA extracted from the peripheral blood mononuclear cells (PBMCs) from 20 ALS patients as well as from 20 blood donors by PCR. The results showed the absence of HHV‐6 specific sequences in the DNA of ALS patients as well as of controls. Nevertheless, before conclusions can be drawn on the possible role of HHV‐6 as cofactor in the development of ALS, it is necessary to examine cells other than lymphocytes and a larger number of subjects.
Clinical and immunohistochemical comparison of in vivo injected anti‐Hu and control IgG in the nervous system of the mouse
Authors: Reñé R. , Ferrer I. , Graus F.
Published: January 2011

Anti‐Hu antibodies are usually present in patients with paraneoplastic encephalomyelitis/sensory neuropathy (PEM/SN), and anti‐Hu IgG is found in the nucleus of neurons in the autopsy of these patients. To investigate the clinical effect and distribution of anti‐Hu IgG in the nervous system in an experimental animal model, we injected intraperitoneally anti‐Hu IgG from five patients with PEM/SN to mice daily for 1 or 2 weeks. The IgG distribution in the nervous system was analyzed by an avidin‐biotin immunoperoxidase technique in animals sacrificed 24 h after the last injection. In one group of mice the nervous system was fixed by perfusion and in another (autopsy group) by immersion after keeping the dead animal 16 h at 4°C. None of the mice showed clinical or pathological abnormalities. IgG immunoreactivity was similar in the nervous system of mice injected with anti‐Hu or control IgG. In the perfusion‐fixed mice, IgG was present in leptomeninges, choroid plexus and extracellular space of Gasserian and dorsal root ganglia (DRG). In the autopsy group, there was IgG immunoreactivity in the cytoplasm of neurons of many areas of the brain and in more than 90% of neurons of DRG. Neuronal nuclear IgG deposits were only rarely observed. We conclude that anti‐Hu antibodies alone probably are not responsible for the PEM/SN syndrome. IgG diffusion into the cytoplasm of neurons is a post‐mortem artifact, but this model did not reproduce the predominant nuclear IgG staining observed in autopsies from PEM/SN patients.
Verbal learning and forgetting in patients with temporal lobe epilepsy
Authors: Giovagnoli A.R. , Casazza M. , Broggi G. , Avanzin G.
Published: January 2011

Studies comparing non‐surgical patients with left or right temporal lobe epilepsy (TLE) have shown irregular differences in verbal learning and memory. We assessed the performance of unoperated patients with epileptogenic temporal lobe lesions or cryptogenic TLE using a selective reminding procedure for the learning of a word list, and five delayed trials for the recall of learned words. On the selective reminding procedure, patients with left TLE were found to be more impaired than those with right TLE and controls, in agreement with the role of the left temporal lobe in verbal learning. The patients with right TLE were more impaired than the controls, possibly due to the semantic organization of the word list The rate of forgetting learned words was similar in the patient and control groups, suggesting that patients with left TLE can normally retain and/or retrieve stored items. These data support the hypothesis that distinct functional systems subserve learning and memory. Comparisons of the patient subgroups with epileptogenic lesions (hippocampal sclerosis or low‐grade glioma) and those with cryptogenic TLE did not reveal any significant difference in learning or in memory, suggesting that epileptiform activity could affect verbal performance as a detectable temporal lesion.
Massive cerebral venous thrombosis associated with the bilateral catheterization of the internal jugular veins: a case report
Authors: Berlot G. , Nicolazzi G. , Viviani M. , Tomasini A. , Bussani R.
Published: January 2011

The authors describe the occurrence of the thrombosis of the cerebral venous sinuses in a patient in coma due to a large hemispheric infarction attributed to the thrombosis of the left internal carotid artery. After his admission to the Intensive Care Unit, a fiberoptic catheter was advanced into the left internal jugular vein to monitor the jugular bulb blood oxygen saturation, and the controlater was catheterized In order to supply fluids and medications. Despite the aggressive treatment, the patient died and, at the autopsy a massive thrombosis of the internal jugular veins was found, which extended to all the sinuses, in the absence of evident carotideal abnormalities. The authors describe the possible mechanisms of the massive thrombosis.
Clinical, biochemical and molecular genetic findings in a family with adrenomyeloneuropathy
Authors: Vorgerd M. , Fuchs S. , Conzelmann E. , Tegenthoff M. , Malin J.‐P.
Published: January 2011

A 42‐year‐old male patient presenting with clinical and biochemical evidence of adrenomyeloneuropathy (AMN) developed progressive spastic paraparesis and sensory ataxia from the age of 24. Biochemical studies showed elevated plasma concentration of saturated very‐long‐chain fatty acids (VLCFA). A nine‐base pair deletion in exon one within the adrenoieukodystrophy (ALD) gene (967del9) was detected by mutation screening on the patient's genomic DNA. This mutation predicts the replacement of aspartic acid 194 by valine (D194V) and deletion of the three following amino acids in the deduced ALD protein sequence. The subsequent reading frame appears to be unaffected. Molecular genetic analysis in the patient's family allowed definitive identification of a heterozygous carrier of ALD/AMN and exclusion of the ALD/AMN carrier status for one possible heterozygous female.
Electrodiagnosis of deep palmar ulnar neuropathy at the pisohamate hiatus
Authors: Katirji B. , Dokko Y.
Published: January 2011

We present the clinical and electrophysiological findings of four patients with distal ulnar nerve lesions affecting, selectively, the deep palmar branch at the pisohamate hiatus. All presented with hand weakness and wasting, sparing the hypothenar muscles, without sensory manifestations. Two had palm pain. Three had possible precipitating trauma to the hand. All improved: three following decompression of constricting bands at the pisohamate hiatus and one spontaneously. At diagnosis, the ulnar motor amplitudes recording first dorsal interosseus (1st DI) were absent or very low. Recording the abductor digiti minimi (ADM), the amplitudes were normal or borderline. Needle EMG showed fibrillations and loss of motor unit potentials in all ulnar‐innervated muscles in the hand, except the ADM. Follow‐up ulnar conduction studies showed significant improvement of amplitudes recording 1st DI. Based on our cases and analysis of the literature, we conclude that lesions of the deep palmar branch of the ulnar nerve, distal to the branch to the ADM, are frequently caused by compression at the pisohamate hiatus, second only to compression by a ganglion. When treated surgically, this disorder carries good prognosis.
Bilateral acute carpal tunnel syndrome and hyperthyroidism: a case report
Authors: Padua L. , Lo Monaco M. , Gregori B. , Tonali P.A.
Published: January 2011

A 26‐year‐old man acutely developed bilateral sensory symptoms of carpal tunnel syndrome (CTS). Neurophysiological investigations confirmed the diagnosis of CTS with findings suggesting conduction block of sensory fibers. Endocrinological studies revealed a hyperthyroidism. He was treated with methimazole and propranolol with improvement of thyroid function. The neurophysiological and clinical follow‐up revealed a progressive improvement of CTS. The echography performed at wrist bilaterally failed to show any rough compressive factors in the carpal tunnel. The clinical, neurophysiological and endocrinological evolution suggest a relationship between hyperthyroidism and acute bilateral CTS.
Migraine associated with head trauma
Authors: Russell M.B. , Olesen J.
Published: January 2011

Migraine associated with head trauma i.e. onset of migraine in close temporal relation to a head trauma was analyzed in a large population based survey of 4000 forty‐year‐old males and females. Of the 29 people with migraine associated with head trauma, 20 had migraine without aura associated with head trauma, six had migrainous disorder without aura associated with head trauma and three had migraine with aura associated with head trauma. Eleven had a significant head trauma (loss of consciousness or posttraumatic amnesia lasting more than 10 minutes) and 18 had a minor head trauma. The overall lifetime prevalence of migraine associated with head trauma was 1.4% with a male‐female ratio of 1:2.4. The symptomatology of migraine associated and unassociated with head trauma was not different. The first degree relatives of probands with migraine associated with head trauma were blindly interviewed by a physician. The first degree relatives of probands with migraine without aura associated with head trauma had a significantly lower risk of migraine without aura than first degree relatives of probands with migraine without aura unassociated with head trauma. We conclude that migraine without aura associated and unassociated with head trauma have a different aetiology. Thus, it is very likely that a head trauma may cause migraine without aura. The mechanisms involved in trauma induced migraine without aura are unknown.
A Japanese family of autosomal dominant hypokalemic periodic paralysis with a CACNL1A3 gene mutation
Authors: Ikeda Y. , Abe K. , Watanabe M. , Shoji M. , Fontaine B. , Itoyama Y. , Hirai S.
Published: January 2011

Recent genetic research revealed that hereditary periodic paralysis is an ion‐channel disorder. Genetic linkage analysis has mapped the autosomal dominant hypokalemic periodic paralysis (HypoPP) locus to chromosome 1q31–32, where the dihydropyridine sensitive calcium channel α1 subunit (CACNL1A3) is located. Subsequently, two predominant missense point mutations were found in the CACNL1A3 gene. Both mutations substitute arginine to histidine (Arg528Ilis and Arg1239His). The Arg528His mutation is characterized by incomplete penetrance in females, whereas Arg1239His is not. We analyzed Japanese hypokalemic periodic paralysis patients (familial, sporadic and thyrotoxic), and detected the Arg528His mutation in one HypoPP family. This family shows more severe symptoms in successive generations and the severity of the symptoms is higher in males than in females within the same family.
Increased GABA synthesis in skin fibroblasts of patients with Huntington's disease: a possible role of glutamic acid decarboxylase?
Authors: Gerlach M. , Kuhn W. , Müller Th. , Winkel R. , Lange H. , Przuntek H.
Published: January 2011

Activity of glutamic acid decarboxylase (GAD) was determined in extracts from cultured human skin fibroblasts of patients with Huntington's disease (HD) and compared to an age‐ and sex‐matched control group. The fibroblasts were cultured up to eight passages. In patients suffering from HD a significant increased activity of GAD (∼ 3–5 fold compared to age‐ and sex‐matched controls) was found in passages 4–8. This may indicate a defect in the genetic expression of GAD concentration or regulation and/or may indicate that increased levels of glutamate may also be responsible for neuronal degeneration in HD.
An atypical case of mononeuritis multiplex in primary Sjogren's syndrome
Authors: Curtò N. , Appollonio I. , Frattola L.
Published: January 2011

We present an atypical case of peripheral nervous system (PNS) involvement in Sjogren's syndrome in a 63 year‐old woman. Symptoms of an entrapment neuropathy were the first manifestation of the systemic disease and they were subsequently coupled to those of a mononeuritis multiplex. Clinical and laboratory signs for the diagnosis of Sjogren's syndrome became subsequently overt. The mononeuritis multiplex remained clinically limited to the upper limbs and characterized by unusually severe motor symptoms which progressed up to the development of a final complete deplegia. By contrast, sensory symptoms at the upper limbs remained mild over the entire course of the disease and the lower limbs revealed a subclinical sensory‐motor damage only during the late stage.
Evaluation of interleukin 10 and interferon‐α in the cerebrospinal fluid and serum of patients with multiple sclerosis
Authors: Carrieri P. B. , Maiorino A. , Provitera V. , Perrella A. , Perrella O.
Published: January 2011

The activities of IL‐10, a cytokine produced by TH2 cells, monocytes and B‐cells, and IFN‐α, a product of activated macrophages/monocytes, were investigated in the CSF and serum samples of 25 subjects with clinically definite multiple sclerosis (MS), of whom 14 were in the active and nine in the stable phase, and of 15 controls with other noninflammatory neurological diseases (OND). Elevated CSF IL‐10 and IFN‐α levels were found in MS patients in the stable phase with respect to patients in the active phase (p > 0.001), while no significant differences were observed in the mean serum levels between MS patients (both in the active and stable phase) and controls. Finally, a significant correlation was detected between IL‐10 and IFN‐α in the CSF of MS patients in remission. This study suggests that IL‐10 may downregulate MS progression.
Motor‐evoked potentials from multiple target muscles in multiple sclerosis and cervical myelopathy
Authors: Mathis J. , Hess Ch. W.
Published: January 2011

Motor‐evoked potentials (MEP) from abductor digiti minimi (ADM), biceps brachii (BB) and tibialis anterior (TA) muscle were analysed in 101 patients with multiple sclerosis (MS) and in 72 patients with compressive cervical myelopathy (CM). In definite MS the results were abnormal in 82% and in probable or possible MS in 64% of patients. In CM results were abnormal in 56% when the compression site was at the C4/C5 interspace or higher (CMC1‐C4‐), and in 100% when the compression fell between the C5 and C7 level (CMC5‐C7). The pattern of normal responses from BB with abnormal responses from ADM was found in 37% of patients with CMC5‐C7, in 10% of patients with MS (p = 0.01) and in 19% of patients with CMC1‐C4+. Abnormal MEP from both ADM and BB were significantly more frequent in MS than in CM (p = 0.002). Although “specific patterns” of MEP abnormality could be significantly correlated with patient groups and anatomical compression sites, they cannot be taken as a reliable diagnostic clue in the individual case. In particular, abnormal responses from BB were frequently also found in CMC5‐C7. These discrepancies cannot be explained on the basis of a localized mechanical mechanism and raise the question of the pathogenesis in CM.
Von Hippel—Lindau disease in twins: clinical and molecular study
Authors: Daniele S. , Pelliccioli G. P. , Daniele C , Mandich P. , Montera M. , Simoncelli C. , Bianchi M. , Cavaliere A.
Published: January 2011

von Hippel Lindau disease is a familial syndrome transmitted as an autosomal dominant trait with variable penetrance and expression. It presents with vascular tumours that involve the central nervous system, visceral organs and other tissues. Although sporadic cases have been described, it usually affects several members of a family. We report two young male twins with simultaneously manifesting haemangioblastomas of the right cerebellar hemisphere. In one, the neoplasm was associated with medullary and spinal cord solid tumours; in the other, with a nasopharyngeal bleeding fibroangioma, an association not described previously. No other member of the family had retinal lesions. A grand mother had bilateral high myopia and glaucoma. A third sib, two years older, presented on his right forearm with a cafè au lait skin spot The preliminary findings of the molecular study still in progress on all the living members of the family have evidenced DNA mutation in the twins only, i.e. an A/G transition in the exon 1B of the VHL gene. This base change determines an asparagine substitution with a serine at codon 446 of the protein.
The 17p11.2 locus in hereditary neuropathy with liability to pressure palsies, in juvenile and familial carpal tunnel syndrome and in hereditary neuralgic amyotrophy*
Authors: Kownacki J. , Fellenberg J. V. , Rösier K. , Schneider V. , Bettecken T. , Moser H. , Burgunder J.‐M.
Published: January 2011

The presence of deletions at the CMT‐1a locus containing the gene encoding the myelin protein, PMP‐22 on chromosome 17p11.2 was assessed in patients with hereditary neuropathy with liability to pressure palsies (HNPP), with hereditary neuralgic amyotrophy and with hereditary carpal tunnel syndrome. Affected members in all families with HNPP, except in one, had a deletion, in one of them a partial one. None of the non‐affected relatives, none of the members of the other three groups and none of the controls showed a deletion. These data confirm that the majority of patients with HNPP have a deletion at the PMP‐22 gene locus. They do not suggest, however, that such a deletion accounts for a predisposition to the development of hereditary neuralgic amyotrophy or of carpal tunnel syndrome.