bluuebunny/crossref_metadata_2025_split huggingface dataset:
Adult‐onset subacute sclerosing panencephalitis: Case reports and review of the literature
Authors: Singer Carlos , Lang Anthony E. , Suchowersky Oksana 
Published: May 2005

AbstractSubacute sclerosing panencephalitis (SSPE) is mainly thought of as a disorder of childhood and adolescence and may not be readily recognized when presenting later in life. Prior reports have suggested that adult‐onset SSPE may have atypical features. We have added two cases to the existing literature on adult‐onset SSPE, compared them with a more classic juvenile presentation, and extensively reviewed those reports that were published after the etiological link with the measles virus had been established. Adult‐onset SSPE patients present at a mean age of 25.4 years (range 20–35 years). They have a higher proportion of either negative history of measles exposure or undocumented history by the reporting authors. Those with available history of measles exposure tend to have it either earlier (younger than 3 years old) or later (after 9 years) than the usual childhood measles infection. Where the primary infection is known, unusually long measles‐to‐SSPE intervals have been documented, ranging from 14 to 22 years. None of the cases followed measles vaccination. Visual symptomatology was very frequent, with 8 of the 13 cases reviewed having a purely ophthalmological presentation; only 2 patients presented with behavioral changes. Although the course of the disease was progressive and fatal in the majority, there appeared to be a higher rate of spontaneous remission as compared with childhood‐onset SSPE. Myoclonus, spastic hemiparesis, bradykinesia, and rigidity were the predominant motor manifestations. Neuropathology revealed cortical and subcortical gray matter involvement preferentially of the occipital lobes, thalamus, and putamen. The importance of recognizing the spectrum of potential presentations of SSPE and providing an early diagnosis will increase as more effective treatments become available.
Clinical features and management of two cases of encephalitis lethargica
Authors: Blunt Stavia B. , Lane Russel J. M. , Turjanski Nora , Perkin G. David 
Published: May 2005

AbstractTwo patients with presumed encephalitis lethargica are presented with clinical features suggestive of two forms of the disease described by Von Economo: One patient had a psychosis and a mute‐akinetic syndrome associated with myoclonus. The second patient presented with a psychosis and fever, developing severe dyskinesias involving the mouth, trunk and limbs, together with respiratory irregularities and presumed hypothalamic disturbance and disturbance of consciousness. In both cases, initial cerebrospinal fluid (CSF) examination revealed an elevated white cell count (predominantly lymphocytes), elevated protein in case 2, and oligoclonal bands in both cases. Computed tomography (CT) brain scan was normal but in both cases EEG revealed diffuse slow wave activity. A 18F‐Dopa positron emission tomography (PET) scan in case 2 was normal. The medical management of both patients is discussed. In case 1, L‐Dopa improved the akinesia, while the myoclonus responded to clonazepam. In case 2, the severe dyskinesias failed to respond to a number of drugs, and she ultimately required paralysis to relieve her almost continuous movements. Both patients responded rapidly and dramatically to intravenous methylprednisolone. We suggest that steroid treatment should be considered in the acute phase of patients with features suggestive of encephalitis lethargica.
Impairments of movement kinematics in patients with Huntington's disease: A comparison with and without a concurrent task
Authors: Georgiou Nellie , Phillips Jim G. , Bradshaw John L. , Cunnington Ross , Chiu Edmond 
Published: May 2005

AbstractThis study aimed to quantify the efficiency and smoothness of voluntary movement in Huntington's disease (HD) by the use of a graphics tablet that permits analysis of movement profiles. In particular, we aimed to ascertain whether a concurrent task (digit span) would affect the kinematics of goal‐directed movements. Twelve patients with HD and their matched controls performed 12 vertical zig‐zag movements, with both left and right hands (with and without the concurrent task), to large or small circular targets over long or short extents. The concurrent task was associated with shorter movement times and reduced right‐hand superiority. Patients with HD were overall slower, especially with long strokes, and had similar peak velocities for both small and large targets, so that controls could better accommodate differences in target size. Patients with HD spent more time decelerating, especially with small targets, whereas controls allocated more nearly equal proportions of time to the acceleration and deceleration phases of movement, especially with large targets. Short strokes were generally less force inefficient than were long strokes, especially so for either hand in either group in the absence of the concurrent task, and for the right hand in its presence. With the concurrent task, however, the left hand's behavior changed differentially for the two groups; for patients with HD, it became more force efficient with short strokes and even less efficient with long strokes, whereas for controls, it became more efficient with long strokes. Controls may be able to divert attention away from the inferior left hand, increasing its automaticity, whereas patients with HD, because of disease, may be forced to engage even further online visual control under the demands of a concurrent task. Patients with HD may perhaps become increasingly reliant on terminal visual guidance, which indicates an impairment in constructing and refining an internal representation of the movement necessary for its effective execution. Basal ganglia dysfunction may impair the ability to use internally generated cues to guide movement.
6‐Pyruvoyl‐tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: A clinical and molecular study
Authors: Hanihara T. , Inoue K. , Kawanishi C. , Sugiyama N. , Miyakawa T. , Onishi H. , Yamada Y. , Osaka H. , Kosaka K. , Iwabuchi K. , Owada M. 
Published: May 2005

AbstractWe report the case of a 44‐year‐old woman with a partial 6‐pyruvoyl tetrahydropterin synthase (6‐PTS) deficiency, whose predominant clinical symptom was generalized dystonia with marked diurnal fluctuation. Dystonia was present in the eyelids, oromandibular region, trunk, and extremities (Meige syndrome plus double hemiplegia‐like dystonia). A marked and sustained positive response to levodopa was observed. A molecular genetic study revealed a homozygous mutation (I114V) in the 6‐PTS gene. This study indicates that genetic abnormality in the 6‐PTS gene may be a hereditary dystonic disorder. We speculate that our patient has residual 6‐PTS activity in the central nervous system, such as in the liver, and we suggest that residual, but insufficient production of tretrahydrobiopterin may play an important role in causing diurnal fluctuation of symptoms.
Long‐term results with cisapride in Parkinson's disease
Authors: Jost Wolfgang H. , Schimrigk Klaus 
Published: May 2005

AbstractIn this study, we examined whether there is a longterm effect of cisapride on colonic transit in Parkinson's disease. Twenty‐five patients (11 women, 14 men; average age, 64.4 years; moderate symptoms) were studied and treated initially with cisapride, 5 mg, twice a day, and after the first week with cisapride, 10 mg, twice a day. Colonic transit was measured by radioopaque markers at various stages: after 1 week, 6 months, and 1 year. In untreated patients, transit took 131 h; after 1 week with cisapride, it was accelerated to 81 h. After 6 months, colonic transit time amounted to 99 and to 118 h, respectively, after 1 year. Cisapride seems to be highly effective initially. After 6 months, a significant but reduced effect was seen, and after 1 year, only a small effect could be demonstrated.
Midbrain tremor and hypertrophic olivary degeneration after pontine hemorrhage
Authors: Shepherd Gordon M. G. , Tauböll Erik , Bakke Sören Jacob , Nyberg‐Hansen Rolf 
Published: May 2005

AbstractA severe rest tremor arose in a patient's right arm 9 months after a pontine tegmental hemorrhage. Magnetic resonance studies at 4 and 10 months showed residual hemosiderin in the pons and increasing hypertrophic olivary degeneration (HOD) affecting primarily the left olive. The tremor was refractory to pharmacotherapy (clonazepam, propranolol, and levodopa), but was reduced after implantation of a thalamic stimulator device. Although pontine hemorrhage is among several common causes of HOD, it has not previously been appreciated as a cause of midbrain (“rubral”) tremor. A disynaptic dentatorubroolivary tract associated with tremor and a monosynaptic dentatoolivary tract associated with HOD may both be components of the rubro‐olivocerebellorubral loop implicated in midbrain tremor. Their proximity makes the combination of tremor and HOD after pontine tegmental damage plausible and even likely.
Electrophysiological observations in idiopathic opsoclonus–myoclonus syndrome
Authors: Gwinn Katrina A. , Caviness John N. 
Published: May 2005

AbstractTo supplement existing knowledge regarding the pathophysiology of the opsoclonus‐myoclonus syndrome, electrophysiological findings are reported in three patients with idiopathic opsoclonus–myoclonus. Surface electromyography (EMG) revealed <100‐ms synchronous discharges correlating with the clinical myoclonus. Short duration EMG discharges, with no back‐averaged cortical correlate, normal gross electroencephalogram, and no exaggerated responses with either evoked potential testing or long latency EMG responses were observed. The clinical and electrophysiological findings we describe are consistent with a brainstem origin of the myoclonus in this syndrome, with concurrent abnormalities in cerebellar circuits, similar to those described for paraneoplastic cases. The constellation of these electrophysiological findings differentiates the myoclonus in these patients from other clinical myoclonic entities.
Urinary disturbances in striatonigral degeneration and parkinson's disease: Clinical and urodynamic aspects
Authors: Bonnet A. M. , Pichon J. , Vidailhet M. , Gouider‐Khouja N. , Robain G. , Perrigot M. , Agid Y. 
Published: May 2005

AbstractAlthough urinary disturbances are more frequent in multiple system atrophy (MSA) than in Parkinson's disease (PD), the striatonigral degeneration (SND) type of MSA is difficult to distinguish from PD, especially when the latter is associated with orthostatic hypotension or urinary symptoms. The pattern of urinary symptoms and urodynamic dysfunction was analyzed in 15 SND and 35 PD patients with urinary complaints. In SND, dysuria with or without chronic retention, frequently associated with a hypoactive detrusor and low urethral pressure, permitted early and reliable diagnosis. In PD, urgency to void, with or without difficulty voiding, but without chronic retention, associated with detrusor hyperreflexia and normal urethral sphincter function, predominated. In clinical practice, the study of urinary symptoms and bladder function may help to distinguish SND from PD in patients with urinary disturbances.
Dentatorubral and pallidoluysian atrophy (DRPLA) Clinical and neuropathological findings in genetically confirmed north american and european pedigrees
Authors: Becher M. W. , Rubinsztein D. C. , Leggo J. , Wagster M. V. , Stine O. C. , Ranen N. G. , Franz M. L. , Abbott M. H. , Sherr M. , Macmillan J. C. , Barron L. , Porteous M. , Harper P. S. , Ross C. A. 
Published: May 2005

AbstractDentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder that clinically overlaps with Huntington's disease (HD) and manifests combinations of chorea, myoclonus, seizures, ataxia, and dementia. DRPLA is caused by a CAG triplet repeat (CTG‐B37) expansion coding for polyglutamine on chromosome 12 and exhibits the genetic phenomenon of anticipation. This neurodegenerative disease has only rarely been reported in non‐Japanese pedigrees, and there are only a few neuropathological studies in genetically confirmed patients. We report 10 cases of DRPLA from two North American and two British pedigrees in which CTG‐B37 expansions have been demonstrated within each kindred (54‐83 repeats), individually in 8 of the 10 cases, and describe the neuropathological findings in 4 cases. Members of DRPLA kindreds have a wide range of clinical phenotypes and markedly variable ages at onset. The neuropathological spectrum is centered around the cerebellifugal and pallidofugal systems, but neurodegenerative changes can be found in many nuclei, tracts, and systems. Evidence of CTG‐B37 triplet repeat expansion should be sought in HD‐like cases that are negative for expanded triplet repeats within the HD IT15 gene or in autopsy cases with degeneration of the dentatorubral or pallidoluysian systems.
AIDS dementia complex with generalized myoclonus
Authors: Maher John , Choudhri Rshujeel , Halliday William , Power Christopher , Nath Avindra 
Published: May 2005

AbstractFocal and segmental, but not generalized, myoclonus have been described with human immunodeficiency virus (HIV) infection. We describe three patients with generalized myoclonus and acquired immunodeficiency syndrome (AIDS) dementia complex. In each, myoclonus persisted until death, invariably after a course of a few months. In two patients, myoclonus was elicited by sudden auditory stimuli and resembled a startle response. This form of myoclonus may be subcortical in origin. We suggest that the AIDS dementia complex be included among the causes of myoclonic dementia.
The dopamine transporter: A crucial component regulating dopamine transmission
Authors: Jaber Mohamed , Jones Sara , Giros Bruno , Caron Marc G 
Published: May 2005

AbstractThe dopamine system is implicated in the control of locomotion, cognition, and endocrine function, The relative contribution of the various dopamine‐related components is not well established mainly because drugs that target the dopaminergic system often lack selectivity. The in vivo gene inactivation procedure, or knockout, enables the creation of new strains of mice lacking a specific gene. This technique has been applied recently to inactivate the expression of the plasma membrane dopamine transporter. Here we summarize the main findings obtained with these transgenic mice carrying this “genetic defect.” leading to a better understanding of the relative contribution of the dopamine transporter regarding locomotor activity, regulation of the expression of peptides under the control of dopaminergic activity, and responses to various drugs targeting the dopamine system. Our results establish not only the central importance of the transporter as the key element controlling dopamine levels in the brain, but also its role as an obligatory target for the behavioral and biochemical action of amphetamine and cocaine. In addition, the genetically altered mice offer a unique model to test the specificity and selectivity of dopamine transporter‐acting drugs and may provide important new concepts related to the clinical and social implications of conditions such as Parkinson's disease, schizophrenia, and drug addiction.
The ‘common deletion’ is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction
Authors: Kösel Siegfried , Egensperger Rupert , Schnopp Nina M. , Graeber Manuel B. 
Published: May 2005

AbstractPrevious studies have estimated levels of mitochondrial DNA (mtDNA) carrying the 4,977‐base‐pair 'common deletion' in tissues from patients with Parkinson's disease (PD) by using semiquantitative techniques. The role of this deleted mtDNA species in the pathogenesis of PD has remained controversial. We have applied competitive polymerase chain reaction to achieve exact quantitation of deleted mtDNA in the substantia nigra and additional brain regions of cases with neuropathologically confirmed Lewy‐body parkinsonism, In addition, genotyping was carried out for CYP2D6G1,934A and CYP2D6C2,938Talleles and the mitochondrial ND2 (nucleotide 5,460) and transfer RNA for glutamine (nucleotide 4,336) sequence variants. Parkinsonian brains showed 1–3% deleted mtDNA in the substantia nigra, that is, deletion levels were not higher than in age‐matched controls. Our findings suggest that the defect in complex I of the respiratory chain observed in PD is not primarily due to the ‘common deletion’.
Comparison of standard carbidopa–levodopa and sustained‐release carbidopa–levodopa in parkinson's disease: Pharmacokinetic and quality‐of‐life measures
Authors: Pahwa Rajesh , Lyons Kelly , McGuire Desni , Silverstein Paul , Zwiebel Felix , Robischon Mary , Koller William C. 
Published: May 2005

AbstractWe compared clinical, pharmacokinetic, and quality‐of‐life measures in patients with Parkinson's disease (PD) who were on standard carbidopa‐levodopa (Std‐L) and after conversion to sustained‐release carbidopa‐levodopa 50/200 (L‐CR). A total of 20 PD patients with motor fluctuations participated in the study and 18 completed it. There were 10 women and eight men, with a mean age of 67.5 years and a mean disease duration of 9.9 years. All patients underwent 10‐h pharmacokinetic and clinical evaluations while on Std‐L and again while on L‐CR. The patients maintained diaries for 2 days before the 10‐h evaluations and completed a sickness impact profile (SIP) while on Std‐L and again while on L‐CR. The total daily levodopa intake was significantly greater with L‐CR because of the reduced bioavailability of the L‐CR. The mean daily levodopa dosage was 569 mg for Std‐L compared with 751 mg for L‐CR. The patients performed better in walking time, Unified Parkinson's Disease Rating Scale (motor score), and tapping total with L‐CR, although the improvement was not statistically significant. There was no significant difference in dyskinesias between the two preparations. The plasma levodopa levels and the areas under the curve were significantly greater with L‐CR. “On” time as measured by patient diaries was significantly greater for L‐CR. There was no significant difference in the total SIP scores for patients on the two preparations, but patients had significantly better home management and mobility while on L‐CR. In conclusion, L‐CR resulted in more “on” time with greater plasma levodopa levels, which resulted in better home management and mobility.
The acoustic startle response is normal in patients with multiple system atrophy
Authors: Valldeoriola F. , Valls‐Solé J. , Tolosa E. , Nobbe F. A. , Muñoz J. E. , Martí J. 
Published: May 2005

AbstractWe investigated the acoustic startle response in eight patients with MSA and compared the results with those from a group of age matched healthy subjects. Onset latency and amplitude of the responses obtained in the orbicularis oculi, masseter and sternocleidomastoid muscles were not different in patients and control subjects. We conclude that, in spite of the pathological derangement described in brainstem reticular nuclei in MSA, the neuronal circuits mediating the auditory startle reflex are functionally preserved.
Cerebral glucose metabolism in patients with spasmodic torticollis
Authors: Magyar‐Lehmann Stefanie , Antonini Angelo , Roelcke Ulrich , Maguire Ralph P. , Missimer John , Meyer Manuel , Leenders K. L. 
Published: May 2005

AbstractThe pathophysiology of spasmodic torticollis is not clear. Basal ganglia dysfunction has been suggested to underlie this clinical syndrome. We studied resting cerebral glucose metabolism in 10 spasmodic torticollis patients and 10 healthy controls by using positron‐emission tomography and [18F]2‐fluoro‐2‐deoxy‐D‐glucose. Statistical parametric mapping (SPM95) was used to compare both groups on a pixelby‐pixel basis. Torticollis patients showed a significantly higher glucose metabolism bilaterally in the lentiform nucleus (p < 0.005). Analyses performed using normalization of regional to global glucose metabolism confirmed this finding (controls, 1.26 ± 0.06, and patients, 1.35 ± 0.06; p < 0.01). The torticollis score did not correlate with glucose metabolism, nor did disease duration or side of chin direction. Our results indicate that the lentiform nucleus plays a predominant role in the pathophysiology of idiopathic spasmodic torticollis.
Quantitative assessment of botulinum toxin treatment in 43 patients with head tremor
Authors: Wissel Jörg , Masuhr Florian , Schelosky Ludwig , Ebersbach Georg , Poewe Werner 
Published: May 2005

AbstractWe treated 43 patients who had head tremor as the major complaint with local botulinum toxin type A (Btx A) injections into neck muscles: 29 patients were classified as suffering from tremulous cervical dystonia (TCD), and 14 had head tremor without dystonia (HT). All patients were clinically assessed by means of the Tsui scale and a 4‐point pain scale at baseline and follow‐up visit. Quantitative recordings of head tremor with a bidirectional accelerometer system (horizontal and vertical planes) placed on the forehead were obtained before and 2–3 weeks after Btx A injections. Muscle selection for an injection was based on the visible and palpable tremor oscillation in the involved neck muscles and on analysis of standardized simultaneous electromyographic recordings of six cervical muscles. Patients with HT recieved mean total doses of 400 units (U) of Dysport (Btx A) (range, 160–560 U) distributed between the two splenius capitis muscles. Patients with TCD received a mean total dose of 500 U Dysport (range, 320–720 U) injected into a mean of 3 muscles (range, 2–4 muscles). The condition of all patients with HT and of 26 of the 29 patients with TCD improved subjectively. The total on the Tsui scale as well as pain scores decreased significantly (p < 0.05) following treatment. Latency of onset, duration of improvement, and side effects showed no significant difference in HT and TCD. Amplitude of HT decreased significantly for both groups following treatment. The mean dominant peak frequency in TCD and HT was slightly less than 5 Hz and did not change significantly after treatment.
Antiphospholipid antibodies: An epiphenomenon in tourette syndrome
Authors: Singer Harvey S. , Krumholz Andrea , Giuliano Joseph , Kiessling Louise S. 
Published: May 2005

AbstractAntiphospholipids (aPLAs) have been previously identified in children with Tourette syndrome (TS), which has led to the speculation that these antibodies might have a pathophysiologic role in this disorder. Therefore, 21 healthy children and adolescents with TS, whose ages ranged from 7 to 17 years, underwent laboratory studies designed to diagnose the lupus anticoagulant, anticardiolipin (aCL) antibodies [immunoglobulin (Ig) G, IgA, and IgM], and antinuclear antibodies. Although five subjects had at least one value that differed from accepted laboratory standards, the changes were marginal in four of them. Lupus anticoagulant was identified in one patients, based on a minimal requirement of a prolonged dilute Russel viper venom time, clotting studies that did not correct after mixture with normal plasma, and an abnormal platelet neutralization procedure. A prolonged (but correctable) activated partial thromboplastin time was found in one individual, and aCL IgG was marginally increased in three subjects. Two (10%) of a control population of 20 same‐age children also had low positive aCL IgG levels. There were no differences in tics (onset, type, frequency, severity, and family history) or comorbid features between children with normal or “abnormal” laboratory study results. Our data suggest that the presence of aPLAs in TS represents an epiphenomenon rather than a pathophysiologic mechanism.