bluuebunny/crossref_metadata_2025 huggingface dataset:
Parkinsonism and acquired hydrocephalus
Authors: Jankovic Joseph , Newmark Michael , Peter Philip
Published: January 2005

Left hemiparkinsonism was the first symptom of increased intracranial pressure in a 14‐year‐old girl. The parkinsonism resoved when the increased intracranial pressure was relieved by a ventriculo–peritoneal shunt. This is the first case of parkinsonism associated with hydrocephalus caused by non‐neoplastic aqueductal stenosis.
Electrophysiology of the corticomotoneurone pathways in patients with movement disorders
Authors: Thompson P. D. , Dick J. P. R. , Day B. L. , Rothwell J. C. , Berardelli A. , Kachi T. , Marsden C. D.
Published: January 2005

The corticomotoneurone pathways were examined in 21 patients with movement disorders, using the technique of percutaneous electrical stimulation of the motor cortex. Conduction in these pathways was assessed by measuring the latency to onset of electromyographic activity in the muscles of the upper limb after cortical stimulation. In all patients [five with primary (idiopathic) torsion dystonia and two with secondary (symptomatic) hemidystonia, seven with Huntington's disease, four with essential tremor, and three with Parkinson's disease] central motor conduction was normal. This and other evidence suggests that the origin of the disorder of movement in these conditions lies in the delivery of abnormal motor commands to a normal corticomotoneuronal system.
Opioid responsiveness in patients with neuroleptic‐induced akathisia
Authors: Walters Arthur , Hening Wayne , Chokroverty Sudhansu , Fahn Stanley
Published: January 2005

Five patients with either acute or tardive neuroleptic‐induced akathisia (5 weeks to 1 1/2 years duration) were videotaped before, during, and after a 2‐week trial of propoxyphene (Darvon), 100 mg q.i.d., or acetaminophen (Tylenol) with 30 mg codeine, two tabs, q.i.d. Three “blinded” observers, experienced in movement disorders, rated the involuntary movements shown on the videotapes and agreed that, on opioids, all patients showed substantial to complete improvement of their stereotyped restless akathitic movements. Matching placebo was not beneficial. One patient who had improved on opioids was challenged with naloxone while on the opioids. There was a brief but severe reactivation of the akathisia. Our results suggest that opioids offer a selective therapy for patients with neuroleptic‐induced akathisia and further suggests that the endogenous opiate system may be involved in patients with neuroleptic‐induced akathisia.
The relative selectivity of anticholinergic drugs for the M1 and M2 muscarinic receptor subtypes
Authors: Burke Robert E.
Published: January 2005

Anticholinergic drugs are used to treat a number of neurologic disorders, including parkinsonism, vestibular disturbances, and dystonia. Traditionally, these drugs have been thought to act in similar fashion, as competitive antagonists at a single class of muscarinic receptors, and not to differ significantly in their therapeutic efficacy. Recently, however, pharmacologic studies have shown that the novel antagonist pirenzepine is capable of recognizing heterogeneity among muscarinic receptors; high‐affinity pirenzepine sites have been classified as M1 sites and low‐affinity sites as M2. This study examined whether the anticholinergics currently available for treatment of neurologic symptoms have selectivity for these subtypes and whether they differ in their degree of selectivity; the study showed that these drugs do demonstrate selectivity. All had greater affinity for the M1 site, indicated by higher affinity for rat forebrain membranes, where M1 predominates, than hindbrain preparations, where M2 predominates. The degree of selectivity varied greatly; some compounds, such as ethopropazine, had little M1 selectivity, whereas others, such as scopolamine, trihexyphenidyl, and biperiden, were quite selective, like pirenzepine. It is unknown whether these differences in selectivity have any immediate therapeutic implications. However, these results support the emerging concept of muscarinic receptor subtypes and the prospect of developing more selective agents, with enhanced therapeutic efficacy.
Increased shortening reaction in Parkinson's disease reflects a difficulty in modulating long loop reflexes
Authors: Diener Christoph , Scholz Erich , Guschlbauer Brigitte , Dichagans Johannes
Published: January 2005

Short and medium latency electromyographic (EMG) responses to stretch of the triceps surae muscle and long latency EMG responses (LL) in the anterior tibial muscle (TA) were evoked by toe‐up tilt of a movable plat‐form while standing or sitting, in normal subjects and patients with Parkinson's disease. With the stimulus parameters used (amplitude 4°, velocity 50°/s), LL in TA were absent in normals while sitting, but were present in 11 of the 12 patients with Parkinson's disease. In patients, LL latencies were identical in both positions. The results indicate that patients with Parkinson's disease have difficulty modulating long latency responses according to functional demands. Long latency responses in TA in the sitting position may correspond to the shortening reaction observed by other when much stronger stimuli were used.
A single family with writer's cramp, essential tremor, and primary writing tremor
Authors: Cohen Leonardo G. , Hallett Mark , Sudarsky Lewis
Published: January 2005

We studied seven members of a family who had different types of movement disorders: Two had typical essential tremor, two (twins) had typical writer's cramp, one had both essential tremor and writer's cramp, one had primary writing tremor, and one (deceased) had uncharacterized tremor. This appears to be the first report of writer's cramp in twins and in so many family members. This family links together primary writing tremor, essential tremor, and writer's cramp and may help resolve the apparent controversy about the relationship of primary writing tremor to essential tremor and writer's cramp.
Cerebrospinal fluid GABA and homocarnosine concentrations in patients with Friedreich's ataxia, Parkinson's disease, and Huntington's chorea
Authors: Bonnet A. M. , Tell G. , Schechter P. J. , Grove J. , Saint‐Hilaire M. H. , De Smet Y. , Agid Y.
Published: January 2005

Free and total γ‐aminobutyric acid (GABA) and homocarnosine concentrations were measured in the lumbar cerebrospinal fluid (CSF) of patients with Friedreich's ataxia, Huntington's chorea, and Parkinson's disease (with and without levodopa treatment), and compared with those determined in control subjects. Values found in Friedreich's ataxia or Parkinson's disease were not significantly different from those in controls. Unexpectedly, in Huntington patients, known to have a characteristic decrease in GABA and homocarinosine were significantly higher, whereas free GABA was not different from controls. These findings indicate that the measurement of CSF GABA and homocarnosine in patients with CNS degenerative diseases should be interpreted cautiously.
Localized injections of botulinum toxin for the treatment of focal dystonia and hemifacial spasm
Authors: Brin Mitchell F. , Fahn Stanley , Moskowitz Carol , Friedman Andrzej , Shale Heidi M. , Greene Paul E. , Blitzer Andrew , List Theodore , Lange Dale , Lovelace Robert E. , McMahon Don
Published: January 2005

Medical treatment of dystonia usually results in an incomplete response and is frequently unsuccessful. Peripheral surgical therapy is available for some focal dystonias, but may only offer temporary relief and may have unacceptable complications. We have used local injections of botulinum toxin into the appropriate muscles for treatment of disabling focal or segmental dystonia in 93 patients with torticollis, blepharospasm, oromandibular dystonia (OMD), limb dystonia, lingual dystonia, and dystonia adductor dysphonia, in addition to four patients with hemifacial spasm. Significant relief of motor symptoms was seen in 69% of the patients with blepharospasm and 64% of patients with torticollis; 74% of the latter group with pain experience relief. Relief of symptoms was noted in most patients with OMD and limb dystonia, and all with lingual dystonia, dystonic adductor spastic dysphonia, and those with hemifacial spasm. Benefit averaged 2½‐3 months initially; however some patients experienced longer relief with subsequent injections. Adverse effects were transient, although 2 patients developed antibodies against the toxin, and we documented evidence for distant effects in others. This approach of chemically weakening contracting muscles in focal dystonia offers many advantages over pharmacotherapy and surgical therapy. Additional experience is needed to explore the proper doses, and potential for long term adverse effects.
Hereditary myoclonus and chorea: The spectrum of hereditary nonprogressive hyperkinetic movement disorders
Authors: Kurlan Roger , Behr Jill , Shoulson Ira
Published: January 2005

We report three members of a single family who developed a newly described combination of myoclonus and chorea in association with mild ataxia. The occurrence of this and related syndromes suggests that inherited, slowly progressive myoclonus, chorea, and dystonia, alone or in combination, should be viewed as a spectrum of hyperkinetic involuntary movements, and that each motor component may represent variable expression of the same genetic defect.
Central stridor from an ependymoma
Authors: Stern Gerald
Published: January 2005

Described herein is the case of one patient who presented with manifestations of an acquired obstructive hydrocephalus and hiccups. After shunting, this patient developed paroxysmal laryngeal stridor and other noises refractory to medications. At autopsy he was found to have a calcified ependymoma.
Orthostatic tremor: An essential tremor variant?
Authors: Papa Stella M. , Gershanik Oscar S.
Published: January 2005

Three patients with a clear‐cut history of essential tremor of the upper limbs presented with the clinical features reported by Heilman as orthostatic tremor. Electromyographic findings included 6–8 Hz postural tremor in all four limbs. Highly synchronized 16 Hz rhythmic discharges were found in the legs upon standing. This peculiar pattern of discharge was also observed in the upper limbs and spinal muscles. High frequency rhythmic bursts, either alternating or co‐contracting were present in specific postures not necessarily related to standing. An additional group of 12 patients with postural tremor of the legs was studied; seven of these showed modification in the frequency and synchronization of the muscle discharges upon standing. Although none of them had the full‐blown clinical syndrome of orthostatic tremor, they complained of mild unsteadiness upon standing, together with a vague sensation of stiffness in the lower limbs. The present findings induce us to think that there might be a link between essential tremor and the so‐called orthostatic tremor. Orthostatic tremor might be an essential‐tremor‐related entity that may be caused by a derangement in the central mechanism in charge of the organization of certain motor activities, not necessarily controlling the standing position.
Writer's cramp: Not associated with anxiety
Authors: Harrington Richard C. , Wieck Angelika , Marks Isaac M. , Marsden C. David
Published: January 2005

Many authors have commented on an association between writer's cramp and anxiety and some view it as a form of anxiety disorder. This study describes 22 patients with writer's cramp who were recruited from a neurology clinic. Clinical examination found little evidence of generalized anxiety or of anxiety specific to the writing situation. Additionally, the subjects' scores on the Crown‐Crisp Experiential Index, which contains several anxiety subscales, did not differ significantly from those of a matched normal control group. Writer's cramp differs from the anxiety disorders in two other respects: it has a later onset (mean in the 30s) and the male preponderance is much greater than in any anxiety disorder, even social phobia.
Reduced glutamate decarboxylase activity in the subthalamic nucleus in patients with tardive dyskinesia
Authors: Andersson Ulf , Hägström Jan‐Erik , Levin Edward D. , Bondesson Ulf , Valverius Milan , Gunne Lars M.
Published: January 2005

Glutamate decarboxylase (GAD) activity was measured in the nuclei of the basal ganglia in patients with neuroleptic‐induced tardive dyskinesia (TD) and controls matched for age and premortem state. In five TD patients, who all had a sudden death, a significant decrease in GAD activity was found in the subthalamic nucleus (STN). The lowered GAD activity in the STN may represent a biochemical substrate for neuroleptic‐induced TD.
Movement disorders and depression due to flunarizine and cinnarizine
Authors: Micheli Federico E. , Pardal Manuel M. Fernandez , Giannaula Rolando , Gatto Mabel , Parera Ignacio Casas , Paradiso Guillermo , Torres Marta , Pikielny Ralph , Pardal Julio Fernandez
Published: January 2005

Over the last few years, cases of movement disorders induced by flunarizine and cinnarizine have been increasingly reported. We describe a series of 101 patients, whose ages ranged from 37 to 84 years (mean 69.1), developing abnormal movements frequently associated with depression, secondary to treatment with either or both drugs. Symptoms closely resembled those induced by neuroleptic drugs and remitted on drug discontinuance in all but five cases after 5–22 months' follow‐up. Whether or not such undesirable side effects are attributable to calcium antagonism and/or dopamine receptor blockade, long‐term treatment with flunarizine or cinnarizine should be discouraged, particularly in the elderly.
Paraneoplastic degeneration of the substantia nigra with dystonia and parkinsonism
Authors: Golbe Lawrence I. , Miller Douglas C. , Duvoisin Roger C.
Published: January 2005

A 42‐year‐old woman suffered unexplained weight loss followed by action tremor and difficulty initiating gait. Three months after onset of symptoms, infiltrating ductal carcinoma of the breast, metastatic to liver and lymph nodes, was diagnosed and treated briefly with cyclophosphamide, methotrexate, and 5‐flourouracil (5FU). Severe symmetric action and postural tremor with a myoclonic component developed, with minimal rest tremor, severe dysarthria and dysphagia, small‐stepped and slightly ataxic gait progressing to a bedbound state, and severe widespread dystonic posturing. The latter began as a typical parkinsonian posture of trunk and upper extremities and progressed to a fixed and painful flexion of the elbows and wrists and extension of fingers and neck. Sinement, anticholinergics, baclofen, diazepam, and plasmapheresis gave no benefit. The patient died of complications of immobility 5 months after neurologic symptom onset. Autopsy revealed many pigmentladen macrophages in substantia nigra and moderate loss of pigmented neurons. Inflammation, Lewy bodies, and tumor were absent. Cerebellar Purkinje cells were moderately depleted. Mild neuronal loss and gliosis were present in globus pallidus and cerebellar cortex. Stains for anti‐human IgG, IgM, kappa, and lambda were negative. This, to our knowledge, is the first report of paraneoplastic degeneration of substantia nigra or paraneoplastic parkinsonism.
Stability of the head in pitch (neck flexion‐extension): Studies in normal subjects and patients with axial rigidity
Authors: Gresty Michael
Published: January 2005

The dynamic stability of the head in pitch during normal upright posture has been studied in normal subjects and patients with neurological disease affecting neck muscle tone by examinig angular head acceleration responses to unpredictable linear motion of the trunk in the direction of surge. Within the frequency range of natural head movements the transfer function between head and trunk for both normal subjects and patients approximated a second‐order linear differential equation involving inertia and coefficients of viscosity and elasticity. The degree of neck rigidity was determined by the damping ratio (viscosity:elasticity), which averaged, 35 for normal subjects and ranged from 0.6 to 0.96 for patients with rigid syndromes. A patient with absent labyrinthine function and a “floppy” head had a damping ratio 0.18. The technique gives a numerical measurement of neck rigidity, which could be of value in characterising severity of disorder and response to therapy.
Antiparkinsonian activity of CY 208–243, a partial D‐1 dopamine receptor agonist, in MPTP‐treated marmosets and patients with Parkinson's disease
Authors: Temlett J. A. , Quinn N. P. , Jenner P. G. , Marsden C. D. , Pourcher E. , Bonnet A.‐M. , Agid Y. , Markstein R. , Lataste X.
Published: January 2005

The effect of stimulation of cerebral dopamine D‐1 receptors by CY 208‐243 on motor disability was tested in MPTP‐treated parkinsonian marmosets and patients with Parkinson's disease. CY 208‐243 (0.5–1.25 mg/kg s.c.) produced a dose‐related reversal of akinesia and rigidity in the marmosets, lasting some 2 h. Single morning doses of CY 208‐243 (5–40 mg) were compared with the usual morning dose of levodopa in eight patients with Parkinson's disease on long‐term levodopa therapy who had developed motor fluctuations from immobility with akinesia and rigidity (off) to mobility often with dyskinesias (on). CY 208‐243 alone was capable of switching such patients from off to on; five of the eight patients responded to the highest dose (40 mg), sometimes with dyskinesias. The response to CY 208‐243 was comparable to that produced by levodopa in these cases. Drugs designed to stimulate both dopamine D1 D2 receptors in the brain may improve the therapy of Parkinson's disease.
Parkinsonism secondary to bilateral striatal fungal abscesses
Authors: Adler Charles H. , Stem Matthew B. , Brooks Tmichael L.
Published: January 2005

A 24‐year‐old man with an 11‐year history of i.v. drug use rapidly developed parkinsonism clinically indistinguishable from MPTP toxicity and Parkinson's disease. Although tests were negative for the human immunodeficiency virus, radiologic evaluation revealed bilateral striatal lesions. Stereotactic biopsy demonstrated septate hyphae consistent with either aspergillosis or mucormycosis. Gradual improvement followed systemic therapy with amphotericin B.
“On‐Off”–induced lethal hyperthermia
Authors: Pfeiffer Ronald F. , Sucha Eugene L.
Published: January 2005

Neuroleptic malignant syndrome (NMS) is being increasingly recognized as a potential complication of neuroleptic therapy. Similar hyperthermic episodes have also been described in other settings of adrupt cessation of dopaminergic stimulation such as levodopa withdrawal. We report a fatal NMS‐like episode occurring as a complication of an “off” period in a patient with Parkinson's disease.
Torticollis and blepharospasm in systemic lupus erythematosus
Authors: Rajagopalan N. , Humphrey P. R. D. , Bucknall R. C.
Published: January 2005

A case of torticollis and blepharospasm as the major manifestation of neurological involvement in systemic lupus erythematosis (SLE) is presented. A 56‐year‐old woman presented with blepharospasm in February 1985 and with torticollis in April 1985. She was diagnosed as having SLE in 1966, on the basis of positive LE cells, when she presented with fever and joint pains. There was on evidence that she had ever been on major tranquilizers. An attempt has been made to correlate the level of antibody titres and exacerbation of these movements with response to steroids. The possibility of an association between blepharospasm, torticollis, and autoimmune disorders has recently been considered.
Dexamethasone suppression test in patients with Parkinson's disease
Authors: Kostić Vladimir S. , Čovičković‐Šternić Nadežda , Beslać‐Bumbaširević Ljiljana , Ocić Gordana , Pavlović Dragan , Nikolić Milisav
Published: January 2005

The Dexamethasone Suppression Test (DST), supposed to effectively distinguish between endogenous and nonendogenous depression, was performed in a group of 34 patients with Parkinson's disease. Abnormal DST results were observed in 50% of the patients. The patients were clinically divided into subgroups of depressed and nondepressed parkinsonians. Abnormal DST results were significantly more frequent in depressed (75%) than in nondepressed parkinsonians (27.7%).
Trunk and head tremor as isolated manifestations of dystonia
Authors: Rivest J. , Marsden C. D.
Published: January 2005

Five patients presenting with isolated tremors of the trunk or neck are described. Their clinical features were similar to seven other patients who presented with head tremor, or arm and head tremor, but then eventually developed obvious torticollis, sometimes with arm dystonia. We conclude that isolated tremor of the trunk or head, especially of slow frequency (2–5 Hz), and in the case of the head in a “no‐no” direction, may be the initial manifestation of focal dystonia.
Follow‐up study of early‐life protective and risk factors in Parkinson's disease
Authors: Golbe Lawrence I. , Farrell Timothy M. , Davis Patricia H.
Published: January 2005

Previous studies suggest that Parkinson's disease (PD) is negatively associated with early‐life intake of vitamin E‐rich foods and positively associated with rural experience. Using a new survey design, we attempted to confirm and extend these results. We gave a telephone questionnaire to 106 patients with PD and to their spouses as controls. It assessed premarital consumption of 31 foods of various vitamin E content, vitamin supplements, and exposure to rural living. Respondents rated food consumption with respect to what they perceived as the average for their sex and age at that time. We found female patients with PD less likely than spouses to have eaten “peanuts and peanut butter” (p < .05), which are high in vitamin E. “Salad with dressing,” also high in vitamin E, gave a similar result (p < .05) for a male‐predominant patient group. Separate comparison of male controls with female controls ruled out sex‐related preferences as the explanation of our findings. Patients had more extensive rural experience and were more likely to have frequently sprayed pesticides (p < .05) than had controls. Our results justify further investigations into early‐life vitamin E intake, pesticides, and neurotoxins associated with rural life.
Generalized reflex myoclonus in a patient with alcohol‐sensitive spontaneous myoclonus and an abnormal gait
Authors: Artieda J. , Luquin M. R. , Vaamonde J. , Laguna J. , Obeso José A.
Published: January 2005

A patient with alcohol‐sensitive spontaneous, action‐ and stimulus‐sensitive generalized reflex myoclonus is reported. Gait was abnormal but could not be clearly classified as dystonic. No other neurological abnormality was present. The possible relationship between alcohol‐sensitive myoclonic dystonic and this case is discussed. Reflex myoclonus may serve as an additional clinical marker in the study of families with alcohol‐sensitive myoclonus, dystonic, or both.
Dystonia and reflex sympathetic dystrophy induced by ergotamine
Authors: Merello Marcelo J. , Nogués Martín A. , Leiguarda Ramón C. , Saubidet Cristián López
Published: January 2005

A 59‐year‐old man developed dystonia and reflex sympathetic dystrophy after receiving high doses of ergotamine for migraine treatment. Ischemia is suggested as the precipitating factor.
Machado‐Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies
Authors: Sudarsky Lewis , Corwin Lee , Dawson David M.
Published: January 2005

Experience is described in 25 patients from southern New England with Machado‐Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.
Severe generalised dystonia associated with a mosaic pattern of striatal gliosis
Authors: Gibb W. R. G. , Kilford L. , Marsden C. D.
Published: January 2005

A mosaic pattern of striatal pathology is described in a male who developed severe generalised dystonia from the age of 10 years, and died at the age of 18 years. There was no family history of dystonia, and extensive investigations during his life failed to identify a cause for the dystonia. The caudate nucleus and putamen showed a network of cell loss and gliosis surrounding islands of preserved striatum. Dorsal parts showed confluent gliosis, and ventral parts were spared. The pattern suggested a correlation with patch‐matrix organisation, but there was no correlation with the distribution of calbindin immunoreactive cells, which are present in the matrix of the classical striosome‐matrix organisation. The pathological findings were unlike those in status marmoratus, perinatal hypoxia‐ischaemia, Huntington's disease, and neuroacanthocytosis, but similar to those reported in a 44‐year‐old man with predominantly cranial dystonia.
Influence of cholinergic system on myoclonus in myoclonic epilepsies
Authors: Rektor Ivan , Švejdová Milada , Silva‐Barrat Carmen , Menini Christian
Published: January 2005

The effect of two drugs upon multifocal myoclonic jerks was evaluated. The drugs influence the central cholinergic system in opposite ways. Eight patients with progressive and nonprogressive myoclonic epilepsy were tested. The single blind test was used. The number of myoclonic jerks after intravenous physostigmine (mean dose 0.02 mg/kg) and that after atropine (0.04 mg/kg) was compared to number of myoclonic jerks in the drug‐free periods and with placebo. Placebo was without an effect. Physostigmine slightly increased the number of jerks. Atropine decreased the number significantly. In most patients the results were not striking. It is suggested that the cholinergic system may participate in the physiopathology of the studied myoclonic in a rather indirect, perhaps modulating way.
Impairment of high‐contrast visual acuity in Parkinson's disease
Authors: Jones Richard D. , Donaldson Ivan M. , Timmings Paul L.
Published: January 2005

Several studies have shown that the visual system is affected in Parkinson's disease (PD) with reduced contrast sensitivity, low‐contrast acuity, and flicker sensitivity, as well as altered electroretinograms (ERGs) and pattern visual evoked potentials (VEPs). Apparently, however, no study has yet specifically determined whether visual acuity to high‐contrast stimuli is impaired in PD. Visual acuity was measured in a group of 16 patients with PD, both on and off drugs (for 24 h), and 16 age‐ and sex‐matched normal control subjects. Acuity was impaired in the PD group both on standard Snellen chart and on a screen in a computerized test of visual resolution. The degree of impairment was 24 and 25%, respectively, in the two tests. The PD patients had marginally better acuity on both tests while receiving drugs, but the differences were not significant. The difference between the two groups was consistent with impaired resolution and could not be accounted for by any perceptual dysfunction that may also have been present in the PD group. Conversely, however, impaired acuity may be implicated in studies that have reported mild deficits of visuospatial/visuoperceptual function in PD. Reduced acuity appears to be a subtle sequela of dopaminergic deficiency in the visual system.
Effects of a selective partil D1 agonist, CY 208‐243, in de novo patients with Parkinson disease
Authors: Emre M. , Rinne U. K. , Rascol A. , Lees A. , Agid Y. , Lataste X.
Published: January 2005

A selective dopamine D1‐receptor agonist, CY 208‐243, was administered to 23 de novo patients who had had Parkinson disease (PD) for ≤3 months. The drug was first used as monotherapy and then in some patients in combination with a dopamine D2‐receptor agonist, bromocriptine. Results showed that CY 208‐243 exerted a mild antiparkinsonian action, and tremor was the main symptom that consistently improved. The addition of bromocriptine ≤15 mg to CY 208‐243 did not result in additional improvement, but this might be due to the short duration of treatment and the low doses of bromocriptine. The study was prematurely discontinued for safety reasons. We conclude that D1‐receptor stimulation may result in improvement of motor disability in PD.
Intravenous boluses and continuous infusions of L‐DOPA methyl ester in fluctuating patients with Parkinson's disease
Authors: Stocchi F. , Ruggieri S. , Carta A. , Ryatt J. , Quinn N. , Jenner P. , Marsden C. D. , Agnoli A.
Published: January 2005

In six patients with Parkinson's disease exhibiting severe “on‐off” phenomena, a 200‐mg intravenous bolus of either L‐DOPA or of its methyl ester were equally effective in reversing motor deficits, although the duration of action of the methyl ester was shorter. There were no marked differences in phermacokinetic parameters for L‐DOPA plasma levels after administration of L‐DOPA and the methyl ester. In three patients, optimal infusion rates for the maintenance of mobility were established for L‐DOPA and L‐DOPA methyl ester. Both drugs were able to maintain patients “on” throughout a 12‐h infusion period. However, on average the optimal infusion rate of L‐DOPA methyl ester was 2.7 times greater than that for L‐DOPA. There was no marked difference in the plasma levels of L‐DOPA achieved, but 3‐O‐methyl DOPA levels increased more after infusion of L‐DOPA methyl ester than after infusion of L‐DOPA itself. The half‐life of elimination and volume of distribution of L‐DOPA formed form the methyl ester were markedly increased compared with values obtained after either an intravenous bolus of methyl ester or after an intravenous infusion of L‐DOPA itself. An intravenous bolus of L‐DOPA methyl ester produces an equivalent magnitude of clinical response to the same dose of L‐DOPA. However, higher optimal infusion rates of methyl ester than L‐DOPA are required to produce continuous effect. The pharmacokinetic handling of L‐DOPA methyl ester given by intravenous infusion may differ from that of L‐DOPA when given by the same route.
Dystonia following head trauma: A report of nine patients and review of the literature
Authors: Krauss Joachim K. , Mohadjer Mohsen , Braus Dieter F. , Wakhloo Ajay K. , Nobbe Fritz , Mundinger Fritz
Published: January 2005

We report nine patients who developed dystonia following head trauma. The most frequent form was hemidystonia only (six patients). One patient presented with hemidystonia plus torticollis, one with bilateral hemidystonia and one with torticollis only. Seven patients sustained a severe head injury, and two had a mild head injury. At the time of injury, six were younger than 10 years, two were adolescents, and the patient with torticollis only was an adult. Except in the patient with torticollis only, the onset of dystonia varied considerably from months to years. All patients with hemidystonia had posthemiplegic dystonia of delayed onset. Seven out of 8 patients with hemidystonia had lesions involving the contralateral caudate or putamen, as demonstrated by CT and MR. The patient with hemidystonia plus torticollis had no lesion to the basal ganglia, but a contralateral pontomesephalic lesion. Response to medical treatment was generally poor. Functional stereotactic operations were performed in seven patients. A variety of factors may be responsible for the vascular or nonvascular posttraumatic basal ganglia lesions, which may lead to dystonia. The pathophysiology seems to be more complex than thought previously. We believe that dystonia following head injury is not as rare as is assumed. Awareness of its characteristics and optimized diagnostic procedures will lead to wider recognition of this entity.
Postural axial tremor in a patient with cerebellar atrophy
Authors: Albanese A. , Daniele A. , Lo Monaco M. , Di Lazzaro V. , Restuccia D. , Milone M. , Tonali P.
Published: January 2005

A patient affected by low‐frequency postural tremor of the trunk and limbs is reported. Apart from mild dysarthria and gait ataxia, no other neurological abnormalities were present. Cerebellar atrophy was demonstrated by means of magnetic resonance imaging. The tremor was associated with alternating activity in antagonistic muscles; it was triggered whenever a contraction of lumbar back extensor muscles occurred. Electrical stimulation of the cerebellum did not produce the normal suppression phases of motor responses evoked by a magnetic stimulation of the cerebral cortex.
Treatment of nonoccupational limb and trunk dystonia with botulinum toxin
Authors: Quirk J. A. , Sheean G. L. , Marsden C. D. , Lees A. J.
Published: January 2005

We report the results of treatment of 16 patients (14 women, two men; 18–81 years old) with nonoccupational limb and trunk dystonia with botulinum toxin A (BTX; Dysport). A total of 18 clinical problems were identified. Outcomes were assessed in terms of pain relief and improvement in posture and function by the combined observations of the patient and physician. Patients' satisfaction with treatment was high–the benefit in 15 of 18 problems was rated as good to excellent. Reduction in pain was achieved in nine of 10 painful problems, with total relief in four cases. Some normalisation of posture was obtained in 17 of 18; it was complete in three cases. Functional improvement was less common (10 of 18). Excessive weakness was the most common side effect, affecting five patients, but it was disabling in only two. We conclude that BTX can provide substantial benefit with minimal side effects in the majority of patients with these conditions, particularly with pain relief and postural improvements.
Hypokinesia in Huntington's disease
Authors: van Vugt Jeroen P. P. , van Hilten Bob J. , Roos Raymund A. C.
Published: January 2005

Motor activity was quantitatively assessed over a period of 5 days using a wrist‐worn activity monitor in 14 patients with Huntington's disease (of whom 4 used neuroleptic drugs) and 14 age and sex‐matched healthy controls. Additionally, patients were rated for dementia, depression, clinical impairment of motor tasks, chorea, and disability. A significant decrease in daytime motor activity was observed in patients compared with controls, suggesting hypokinesia rather than hyperkinesia. Hypokinesia tended to be more severe in patients using neuroleptic drugs. Lower activity levels were significantly related to lower scores of functional disability, but not to other clinical measures. We conclude that hypokinesia is a prominent manifestation in Huntington's disease that is worsened by the use of neuroleptics.
Botulinum toxin injection into vocal cord in the treatment of malignant coprolalia associated with Tourette's syndrome
Authors: Scott Burton L. , Jankovic Joseph , Donovan Donald T.
Published: January 2005

We describe a 13‐year‐old boy with Tourette's syndrome (TS) manifested chiefly by severe coprolalia, obsessive compulsive disorder, and attention deficit hyperactivity disorder. He was treated with unilateral injections of botulinum toxin to the vocal cord and experienced marked improvement in coprolalia as well as marked reduction in the premonitory urges associated with the vocal tics and coprolalia. As a result of the improvement, the patient was able to attend school and church and was able to socialize. Botulinum toxin may interfere with a sensory reflex are required to perpetuate tics and coprolalia in TS, possibly by reducing local build‐up of tension or muscle contraction in affected areas.
Brain levels of thiamine and its phosphate esters in Friedreich's ataxia and spinocerebellar ataxia type 1
Authors: Bettendorff Lucien , Mastrogiacomo Frank , LaMarche Jacques , Diožić Slobodan , Kish Stephen J.
Published: January 2005

Decreased blood and cerebrospinal fluid levels of thiamine have been reported in patients with spinocerebellar ataxia disorders. To determine whether a thiamine deficiency is present in the brain, we measured levels of thiamine and its phosphate esters thiamine monophosphate (TMP) and thiamine diphosphate (TDP), in postmortem cerebellar and cerebral cortices of patients with Friedreich's ataxia (FA) and spinocerebellar ataxia type 1 (SCA1). Brain levels of free (nonphosphorylated) thiamine, TMP, TDP, and total thiamine in FA and SCAI were, on average, not significantly different from control values. However, a nonsignificant trend was observed for slightly reduced levels of TDP and total thiamine in cerebellar cortex of the SCA1 patients, a finding that might be related to the severe neuronal damage in this brain area. We conclude that in FA, brain thiamine concentrations are normal, whereas in SCA1 the levels are, at most, only slightly reduced.
Centronuclear myopathy: Possible central nervous system origin
Authors: Serratrice G. , Pellissier J. F. , Faugere M. C. , Gastaut J. L.
Published: January 2005

The authors describe a case of myopathy characterized physically by limb weakness, eyelid ptosis, voluntary and reflex paralysis of vertical movements of gaze, and loss of deep tendon reflexes; and morphologically by the abnormal presence of centrally located nuclei in muscle fibers and type 1 fiber hypotrophy. The establishment in this case study of two particular findings–the probably nuclear or supranuclear ophthalmoplegia and the apparently impaired nuclear migration from the center of the muscle fiber toward its periphery–supports the hypothesis of a neuromuscular disorder whose level of severity depends on the degree of difficulty in the nuclear migration itself. This would be linked to a reduction in central nervous system influence.
Biochemical and physiologic consequences of carnitine palmityltransferase deficiency
Authors: Carroll James E. , Brooke Michael H. , DeVivo Darryl C. , Kaiser Kenneth K. , Hagberg James M.
Published: January 2005

A patient with a long history of exercise‐induced pain developed myoglobinuria and respiratory failure following extensive exercise (football). Although muscle histochemistry was normal, tissue oxidation of 14Clabeled palmitate was decreased, and muscle carnitine palmityltransferase (CPT) activity was one‐tenth of normal. During fasting, his creatine kinase (CK) rose from 127 mu/ml to 278 mu/ml and blood ketones failed to exhibit a normal rise. Triglycerides were normal, as was fatty‐acid mobilization. Prolonged exercise resulted in an inordinately increased CK with only moderate elevations in lactate. Treatment with medium‐chain triglycerides did not alter his symptoms or improve exercise performance. Pain on exercise is a common complaint, but the occurrence of myoglobinuria points to a defect of energy metabolism. Screening for defects of fat utilization may be accomplished by the prolonged‐exercise test, invitro oxidation of 14C‐labeled substrates, and prolonged fasting.
Becker‐type muscular dystrophy
Authors: Bradley W. G. , Jones M. Z. , Mussini J‐M , Fawcett P. R. W.
Published: January 2005

This is a review of clinical, cardiologic, electrophysiologic, pathologic, and serum creatine kinase changes in eight families with slowly progressive X‐linked Becker‐type muscular dystrophy. All but one of the patients were able to walk until the age of 16 years, and most lived beyond 20. In every family, electromyography and muscle biopsy showed features which, on the basis of classical criteria, were interpreted as those of both myopathy and denervation, although among patients and among families, one or the other of these processes predominated. The most frequent biopsy picture was of fiber atrophy and hypertrophy, with many split and angulated fibers, and clumps of pyknotic nuclei. Necrosis, phagocytosis, regeneration, endomysial fibrosis, and some fatty infiltration were commonly seen. Review of a family originally described by Becker showed a similar biopsy picture. These pathologic changes are separable from those of Duchenne muscular dystrophy, but they often overlap with those seen in other chronic neuromuscular diseases.
Specificities of antibodies to acetylcholine receptors
Authors: Lindstrom Jon , Campbell Malcolm , Nave Barbara
Published: January 2005

Antisera to acetylcholine receptor purified from the electric organs of Torpedo and Electrophorus were highly species specific, but showed limited cross‐reaction with receptors from all mammalian species tested. Antisera to receptor purified from rat muscle cross‐reacted extensively with receptor from the muscles of other mammals. Antibodies to receptor from Electrophorus cross‐reacting with receptor from Torpedo were affinity purified. Subsequently these showed increased cross‐reaction with receptor from mammalian muscle. Sera from patients with myasthenia gravis reacted best with receptor from human muscle, but such sera also cross‐reacted with receptor from other mammals, especially squirrel monkeys. These sera cross‐reacted slightly with receptor from Torpedo, but not detectably with receptor from Electrophorus.
Muscular dystrophy and activation of proteinases
Authors: Kar Nirmal C. , Pearson Carl M.
Published: January 2005

Evidence is presented for the existence of many different systems of proteolytic enzymes in human skeletal muscle. These include the lysosomal system of cathepsins as well as proteinases and peptide hydrolases that are optimally active at neutral and alkaline pH ranges. The majority of proteolytic enzymes examined are found to show increased activity in dystrophic human muscle. Moreover, a high initial rise is observed in cathepsin B1, a thiol‐dependent endopeptidase of lysosomes, and in dipeptidyl peptidase IV, a membrane‐associated peptidase. In addition, a calcium‐activated neutral proteinase is found to be significantly elevated in muscle from patients with Duchenne dystrophy. The possible roles of these proteinases in intracellular protein catabolism and muscle wasting are discussed.
Lumbar plexus neuropathy resulting from retroperitoneal hemorrhage
Authors: Emery Scott , Ochoa Jose
Published: January 2005

A case of lumbar plexus neuropathy occurring in the setting of heparin therapy is reported. Documentation of the site of a retroperitoneal hematoma by CT scan was made prior to the full clinical evolution of a lumbar plexus neuropathy resulting from a psoas‐muscle hematoma. Two patterns of retroperitoneal bleeding and their respective clinical manifestations are discussed. Early diagnosis of these syndromes may allow for intervention before neurologic compromise is established.
Electrophysiologic findings and prognosis in Bell's palsy
Authors: Boongird Prasert , Vejjajiva Athasit
Published: January 2005

Electrophysiologic investigations were carried out on 45 patients with Bell's palsy at periodic intervals after the onset of paralysis. It was found that there was a good correlation between prognosis in Bell's palsy and the amplitude of evoked motor response obtained after six or more days of clinical paresis. When the average amplitude of evoked motor response was within normal limits (i.e., 504μV or greater), complete recovery with no residual deficits took place two to six weeks after the onset of facial palsy. When the evoked motor response was absent in all three major branches of the facial nerve, indicating complete nerve degeneration, electromyographic signs of recovery were apparent by the third or fourth month after the onset of paralysis. In these cases, recovery was relatively slow and incomplete, with some degree of residual deficit and synkinesis. Maximal return of voluntary facial movement was established 8 to 12 months after the initial symptom. When the mean amplitude of evoked motor response was below the lower limit of normal (i.e., less than 504μV), electromyographic signs of recovery were noted within 1 to 3 months, depending on the amplitude values. The final outcome of this intermediate group was similar, but not identical, to that of the previous group. The prognosis of facial paralysis in Bell's palsy was thus found to be directly related to the mean amplitude of evoked motor response, regardless of the extent of clinical paralysis.
Probable hypothyroid myopathy: Glycogendeficient type 2b fibers
Authors: Wheeler S. D. , Ochoa J.
Published: January 2005

Described herein is a case of hypothyroid myopathy with selective atrophy and glycogen depletion of type 2b fibers shown by light and electron microscopy. Although the pathogenesis of such findings is obscure, it is possible that hypothyroidism in conjunction with a superimposed process might explain paradoxically glycogen‐deficient fibers.
Lipid storage myopathy, ichthyosis, and steatorrhea
Authors: Miranda A. , DiMauro S. , Eastwood A. , Hays A. , Johnson W. G. , Olarte M. , Whitlock R. , Mayeux R. , Rowland L. P.
Published: January 2005

A 41‐year‐old man had ichthyosis, ectropion, steatorrhea, and slowly progressive proximal limb weakness. Biopsies showed abnormal lipid accumulation in muscle, liver, skin, leukocytes, and gastric mucosa. Lipid storage was particularly marked in cultures of skin and muscle, and it increased in subsequent cell generations. By electron microscopy, the lipid globules showed no limiting membranes. The stored lipid was identified by thin‐layer chromatography as triglyceride; there was no excess of cholesterol or cholesteryl esters. Muscle carnitine concentration and activities of carnitine palmityltransferase and acid lipase were normal; 14CO2 production from labeled palmitate in leukocytes was not impaired. The excessive accumulation of triglyceride in different tissues and in the progeny of cells in tissue culture suggests a genetic error of lipid metabolism.
Spontaneous electrical muscle fiber activity in polymyositis and dermatomyositis
Authors: Streib Erich W. , Wilbourn Asa J. , Mitsumoto Hiroshi
Published: January 2005

Forty patients with polymyositis or dermatomyositis underwent detailed electromyographic evaluation. The paraspinal muscles of all patients were examined, as were several extremity muscles. The distribution of fibrillation potentials (FPs) in different muscles is discussed. FPs were most frequent in paraspinal muscles. We conclude that, for any patient suspected of having a myopathy, electromyographic examination should include the paraspinal muscles.
Subclinical entrapment of the lateral femoral cutaneous nerve: An autopsy study
Authors: Jefferson D. , Eames Rosemary A.
Published: January 2005

Five out of 12 lateral femoral cutaneous nerves, removed at routine autopsies, showed pathologic changes in myelinated nerve fibers in the vicinity of the inguinal ligament. These changes included both local demyelination and Wallerian degeneration, particularly affecting the fibers with the largest diameters. The presence of polarized internodal swellings on single nerve fibers from two specimens suggested that mechanical factors were involved in pathogenesis. Endoneurial vascular thickening confined to the region of the inguinal ligament was also seen and may be implicated in the production of some of the symptoms of meralgia paresthetica (MP).