bluuebunny/crossref_metadata_2025 huggingface dataset:
A family with hereditary juvenile dystonia‐parkinsonism
Authors: Ishikawa Atsushi , Miyatake Tadashi
Published: December 2004

We report a family with autosomal dominant type hereditary juvenile dystonia‐parkinsonism in which eight members in three generations exhibited parkinsonism, sleep benefit, marked efficacy of levodopa, wearing‐off phenomenon, and dopa‐induced choreic dyskinesia. However, one case showed mainly dystonic movement that worsened after administration of levodopa. The patients in this family showed neck dystonia, such as torticollis and retrocollis, in addition to foot dystonia and other dystonic movement, such as frequently lifting the thigh. From the family history and clinical findings, these patients are considered to have a specific form of hereditary dystonia‐parkinsonism.
Cervical dystonia due to spinal cord ependymoma: Involvement of cervical cord segments in the pathogenesis of dystonia
Authors: Cammarota Angel , Gershanik Oscar S. , García Silvia , Lera Gabriel
Published: December 2004

We report a patient with a progressive motor disorder dominated by pyramidal signs in all four extremities and cervical dystonia in the form of torticollis, who had imaging features of cervical cord tumor on magnetic resonance imaging (MRI) scanning. Ependymoma was the final diagnosis by histology. Cervical dystonia presenting as a manifestation of an identified focal central nervous system (CNS) lesion is infrequent. We believe our patient to be the first adult example of cervical cord tumor giving rise to cervical dystonia. Adding this entity to the list of differential diagnosis of torticollis is considered, and its mechanisms are discussed.
Auctioneer's jaw: A case of occupational oromandibular hemidystonia
Authors: Scolding N. J. , Smith S. M. , Sturman S. , Brookes G. B. , Lees A. J.
Published: December 2004

An auctioneer is described in whom focal dystonia of the jaw developed as an occupational symptom, occurring solely and predictably when he commenced his selling “patter” and resolving quickly on stopping. He responded well to treatment with intramuscular botulinus toxin.
Reversible parkinsonism and dystonia following probable mycoplasma pneumoniae infection
Authors: Kim Jong S. , Choi Il S. , Lee Myoung C.
Published: December 2004

Infectious disease is a rare cause of parkinsonism. We report a 7‐year‐old boy who developed flu‐like symptoms followed by parkinsonian features including hypophonia, hypomimia, bradykinesia, and dystonia. A T2‐weighted brain magnetic resonance imaging showed high singnal intensities in both basal ganglia. The results of serial serologic tests of Mycoplasma pneumonia antibody suggest that this movement disorder was associated with Mycoplasma pneumonia infection. The patient's symptoms gradually resolved, and the basal ganglionic lesions disappeared on follow‐up magnetic resonance imaging.
International classification of diseases, tenth revison: Neurological adaptation (ICD‐10 NA): Extrapyramidal and movement disorders
Authors: Jankovic Joseph
Published: December 2004

A classification of diseases is important in epidemiologic studies, indexing of clinical disorders, communication, and education. Since the 10th revision of the International Classification of Diseases (ICD‐10) in 1992, a specialty‐based neurological adaptation (ICD‐10NA) has been developed to reflect the specific needs of individual subspecialties. Although the revision was constrained by the need to maintain compatibility with previous classifications, the new ICD‐10NA of Extrapyramidal and Movement Disorders aims to provide an updated and comprehensive categorization of movement disorders.
Reciprocal inhibition in writer's cramp
Authors: Chen Rou‐Shayn , Tsai Chon‐Haw , Lu Chin‐Song
Published: December 2004

We studied the inhibition of median H‐reflexes by conditioning stimuli on the radial nerve in 13 patients with writer's cramp, eight of the simple type and five of the dystonic type, and in 14 normal volunteers. The patients and controls were right‐handed, and their right arms were studied. Asymptomatic left arms were also studied in nine of 13 patients. In the control group we identified three periods of inhibition, with maximum peaks at conditioning‐test intervals of 0 ms (41 ± 17%), 20 ms (40 ± 13%), and 100 ms (36 ± 20%). In the patient group, the amplitudes of inhibition of these three periods in both arms were significantly less than those in the control group. However, there were no significant differences in the amplitudes of inhibition of these three periods between symptomatic and asymptomatic arms. There were also no significant differences between simple and dystonic writer's cramps. Our results indicate that the attenuation of reciprocal inhibition was present not only in symptomatic arms but also in asymptomatic arms of patients with writer's cramp. The defect of reciprocal inhibition in the asymptomatic hand has never been documented. We suggest that the preexistent electrophysiological abnormality may provide an explanation for the development of hand cramp after shifted writing.
Speech dysfunction in early Parkinson's disease
Authors: Stewart Celia , Winfield Linda , Hunt Ann , Bressman Susan B. , Fahn Stanley , Blitzer Andrew , Brin Mitchell F.
Published: December 2004

The purpose of this study is to determine if subjects in the early stages of untreated Parkinson's disease (PD) or PD treated with deprenyl alone suffer from motor speech abnormalities. Speech defects are common in advanced PD, including distrubances of respiration, phonation, and articulation. We studied 12 subjects with early PD (Hoehn and Yahr stage ≤2, mean duration disease 3.2 years) who were not taking symptomatic therapy and tested them under two conditions: on and off deprenyl. None of the subjects was depressed or demented (Mini Mental Status mean 29.9/30; Hamilton Depression Rating mean 2.7/52). All functioned independently (Schwab and England Activities of Daily Living mean 93.1/100). Acoustic and speech productions were assessed using the DSP Sona‐Graph 5500 and an evaluation of dysarthria. All 12 had at least two characteristics of dysarthria on examination, although 8 were not aware of it. Vocal tremor was identified on narrow band spectrogram for four subjects. Deprenyl did not have a consistent effect on speech. Ten subjects had no detectable change in speech on deprenyl, one was worse, and one was improved.
Botulinum toxin: Influence on respiratory heart rate variation
Authors: Claus Detlef , Druschky Achim , Erbguth Frank
Published: December 2004

Remote adverse effects of local intramuscular botulinum toxin were investigated in a prospective follow‐up study. Twenty‐six patients with spasmodic torticollis were examined (18 women, eight men, 45 ± 13 years). Respiratory heart rate variation (HRV) was investigated by a computerized method. Different parameters were recorded (beats per minute, coefficient of variation, root mean square successive difference (RMSSD), spectral analysis, difference and quotient between maximum and minimum RR intervals, mean circular resultant). After one intramuscular injection of 12.5 ng botulinum toxin (Porton Products Ltd., England), no significant influence on HRV was seen. After the second injection, a significant attenuation was seen of four parameters (coefficient of variation, Rmax − Rmin, Rmax ÷ Rmin, mean circular resultant) that lasted up to several months. No clinically manifest remote side effects and no cardiac arrhythmia were seen for several months of botulinum toxin treatment. Our investigation proves an effect of local intramuscular botulinum toxin on autonomic cardiac innervation.
Long‐term tolerability and efficacy of cabergoline, a new long‐acting dopamine agonist, in Parkinson's disease
Authors: Inzelberg R. , Nisipeanu P. , Rabey M. J. , Korczyn A. D.
Published: December 2004

Motor fluctuations constitute a severe complication of chronic levodopa therapy. The addition of dopamine agonists may partially alleviate these responses; however, due to the short half‐lefe of these drugs, several daily doses are required. Cabergoline is a new dopamine agonist with a long half‐life and can be given in a single daily dose. Seventeen patients with severe fluctuations were treated with cabergoline, seven of them for >1 year (up to 39 months). The motor status ameliorated and the percentage of “off” hours significantly decreased in the first year and did not increase significantly later during long‐term follow‐up. Cabergoline is a promising treatment for parkinsonian patients with motor fluctuations.
Epidemiology and outcome of cervical dystonia (spasmodic torticollis) in Rochester, Minnesota
Authors: Claypool David W. , Duane Drake D. , Ilstrup Duane M. , Melton L. Joseph
Published: December 2004

The natural history of cervical dystonia (spasmodic torticollis) was investigated in a population‐based study in Rochester, Minnesota. Eleven new cases were identified with onset during the 20‐year period 1960–1979. The overall incidence rate was 1.2 per 100,000 person‐years (95% confidence interval 0.5–1.9) with a female: male ratio of age‐adjusted incidence rates of 3.6:1. A unitary etiology was not apparent: injury antedated onset in four of the 11 patients, whereas six had documented thyroid disease and four had diabetes. A family history of movement disorder was recorded for only one subject. Only one of the cases would have been classified as moderate in severity; the others were mild. In follow‐up through 1993, progressive disability was noted in only two patients, and two others went into remission. Three cases of intracranial aneurysm were confirmed, two of which produced fatal subarachnoid hemorrhage. A third death was due to amyotrophic lateral sclerosis.
Role of peripheral inputs in cerebellar tremor
Authors: Dash M. S.
Published: December 2004

Tremors reflected in the handwriting in nine right‐handed male patients with right‐sided cerebellar lesions were studied by reversibly blocking peripheral inputs from the hand. Blocking was achieved by applying a sphygmomanometer cuff over the mid‐arm and increasing the pressure up to 200 mm Hg. Evoked potentials from the ulnar nerve and handwriting were monitored in each subject at periodic intervals. Improvement in writing was noticed in 3–5 min in different subjects that coincided with partial reduction of the amplitude of the neurograms. This reduction is consistent with dissociate conduction in a small population of large medullated fibers. On releasing the cuff, the neurograms returned to their normal height within the same time frame of 3–5 min, and the handwriting deteriorated with return of tremor. No change in the handwriting of the volunteers was observed at any stage. The ages of the volunteers ranged from 25 to 48 years and those of the patients from 28 to 56 years. The duration of illness of the patients ranged from 1 to 8 years.
Toward a better definition of the restless legs syndrome
Authors: Walters Arthur S. , Aldrich Michael S. , Allen Richard , Ancoli‐Israel Sonia , Buchholz David , Chokroverty Sudhansu , Coccagna Giorgio , Earley Christopher , Ehrenberg Bruce , Feest T. G. , Hening Wayne , Kavey Neil , Lavigne Gilles , Lipinski Joseph , Lugaresi Elio , Montagna Pasquale , Montplaisir Jacques , Mosko Sarah S. , Oertel Wolfgang , Picchietti Daniel , Pollmächer Thomas , Shafor Renata , Smith Robert C. , Telstad Wenche , Trenkwalder Claudia , von Scheele Christian , Walters Arthur S. , Ware J. Catesby , Zucconi Marco
Published: December 2004

A large International Restless Legs Syndrome (RLS) Study Group has been formed. As its first task, the group has taken upon itself the role of definig the clinical features of the RLS. As minimal criteria for diagnosis, the group proposes the following four features: (a) desire to move the extremities, often associated with paresthesias/dysesthesias; (b) motor restlessness; (c) worsening of symptoms at rest with at least temporary relief by activity, and (d) worsening of symptoms in the evening or night. Other features commonly seen in RLS include sleep disturbance, periodic limb movements in sleep and similar involuntary movements while awake, a normal neurological examination in the idiopathic from, a tendency for the symptoms to be worse in middle to older age, and, in some cases, a family history suggestive of an autosomal dominant mode of inheritance.
Screening Parkinson's disease: A validated questionnaire of high specificity and sensitivity
Authors: Duarte J. , Clavería L. E. , De Pedro‐Cuesta J. , Sempere A. P. , Coria F. , Calne D. B.
Published: December 2004

A questionnaire designed to screen Parkinson's disease (PD) in literate populations has been developed. It consists of nine questions, self‐administered at medical facilities or by mail, and a scale of weights for ascribing scores to specific questions when the answer is positive. The questions were chosen to be symptom specific for PD and the weights were determined from answers provided by 37 PD patients in a neurological outpatient clinic. The questionnaire sensitivity was tested on a different PD population from the same outpatient clinic−50 individuals‐and the specificity on a group of 100 ophthalmological patients. The sensitivity was 100% and the specificity was 100%. Three individuals who screened positive among the 100 ophthalmological patients were assessed and given a new diagnosis of PD. This questionnaire therefore constitutes an instrument that should prove valuable as the first stage of a door‐to‐door survey. It has high sensitivity and specificity.
Chronic L‐DOPA administration induces dyskinesias in the 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine‐treated common marmoset (Callithrix jacchus)
Authors: Pearce R. K. B. , Jackson M. , Smith L. , Jenner P. , Marsden C. D.
Published: December 2004

Dyskinesias occur in the majority of patients with Parkinson's disease chronically treated with L‐DOPA and also occur in several nonhuman primate species after 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine (MPTP) and L‐DOPA treatment. The common marmoset (Callithrix jacchus) shows parkinsonian motor deficits after MPTP administration, and we now report dyskinesias occurring in this species during chronic L‐DOPA exposure. Marmosets rendered chronically parkinsonian after MPTP administration were treated orally with L‐DOPA plus carbidopa for 3 weeks. After several days the animals began to display chorea, choreoathetosis, and dystonia. The severity of dyskinesias varied between the animals, with the most severely parkinsonian animals displaying the most dyskinetic movements. Each animal showed an idiosyncratic pattern of dyskinesias, which was highly reproducible. These L‐DOPA‐primed animals also received other D2, D1, and agonist drugs. Quinpirole, bromocriptine, pergolide, apomorphine, and A‐77636 all produced dyskinesias that were identical in character to those seen after L‐DOPA administration, but the D1 agonist A‐77636 gradually abolished dyskinesias while preserving its antiparkinsonian activity. The MPTP‐treated marmoset provides a useful model in which to study dyskinesias in Parkinson's disease and to examine new therapeutic strategies aimed at alleviating this common side effect of chronic dopamine replacement therapy.
Saccadic eye movements in hyperekplexia
Authors: Tijssen M. A. J. , Bollen E. , van Exel E. , van Dijk J. G.
Published: December 2004

Hyperekplexia is an autosomal dominant disorder characterized by excessive startle responses followed by a temporary generalized stiffness. The startle response is generated in the medial bulbopontine reticular formation in the lower brainstem. The pulse generator of horizontal saccadic eye movements is localized in the pontine parmedian reticular formation. Measurements of horizontal visually evoked random saccades, antisaccades, and saccades toward remembered targets were performed in seven patients with familial hyperekplexia and seven healthy age‐matched controls. The peak velocity of all three kinds of saccades was reduced (p < 0.0001) compared with that of controls. Latencies were marginally longer in the patient group (p = 0.0486). Saccadic gains did not differ between patients and controls. The ability to make antisaccades, saccades toward remembered targets, and the ability to suppress reflex saccades are similar in patients and controls. These data suggest that the origin of the excessive startle response is probably more due to a different modulation in the brainstem than to altered cortical influence.
Parkinsonism and dilatation of the perivascular spaces (État Criblé) of the striatum: A clinical, magnetic resonance imaging, and pathological study
Authors: Fénelon G. , Gray F. , Wallays C. , Poirier J. , Guillard A.
Published: December 2004

Two men, 89 and 83 years of age, presented with predominantly axial parkinsonian signs. In both cases, magnetic resonance imaging of the brain showed numerous small foci, delineating the striatum. The lesions had the same signal as cerebral spinal fluid in both T1 and T2 sequences. Postmortem examination of the brain showed numerous lacunes due to dilatation of the perivascular spaces, frequently associated with alterations of the surrounding brain parenchyma. Typical changes of Parkinson's disease were associated in one case. Such vascular changes may produce, or modify, a parkinsonian syndrome.
Motor function in a patient with bilateral lesions of the globus pallidus
Authors: Haaxma R. , van Boxtel A. , Brouwer W. H. , Goeken L. N. H. , van der Gon J. J. Denier , Colebatch J. G. , Martin A. , Brooks D. J. , Noth J. , Marsden C. D.
Published: December 2004

This study describes the long‐term motor deficits of a patient who, after a toxic encephalopathy, sustained extensive bilateral damage to both segments of the globus pallidus (GP) and the right substantia nigra (SN). There were no signs of lesions of the pyramidal tracts or of other motor structures. The most obvious deficits were an abnormal gait with an exaggerated knee extension and a tendency to fall slowly, especially when pushed backward. In contrast, Romberg's test on an unstable platform was normal, as were longlatency leg reflexes induced by perturbations. Inadequate anticipatory and compensatory postural responses, in particular across the hip and knee joints, and slow movements seemed responsible for the falls. Muscle tone was normal but reflex studies showed signs of abnormal facilitation and inhibition at various levels of the neuraxis. We conclude that the GP and SN lesions caused defective input to premotor cortical and brain stem target zones. Dysfunctioning of these zones leads to improper control of the descending ventromedial motor system responsible for locomotion, postural control, and reflex status. The deficits in upper extremity motor performance included delayed and slow movements, inaccurate amplitudes of ballistic reponses, a lack of predictive control, and deficits in bimanual coordination. Sensory feedback, proprioceptive more than visual, played a powerful compensating role in rapid aiming movements. Regional blood flow (studied using 15O2) was reduced in multiple frontal cortical regions, among which are the hand areas of the supplementary and premotor cortex. We hypothesize that this reflected impaired functioning of these areas, caused by defective bilateral output from GP and SN, and resulting in the motor deficits of the arm and hand.
Automobile driving in Huntington's disease
Authors: Rebok George W. , Bylsma Frederick W. , Keyl Penelope M. , Brandt Jason , Folstein Susan E.
Published: December 2004

We assessed the influence of the neurological and cognitive impairments of Huntington's disease (HD) on automobile driving. In a group of 73 HD outpatients, 53 (72%) continued to drive after illness onset. Those no longer driving had more severe symptoms than those still driving. Twenty‐nine HD patients who were still driving and 16 healthy control subjects underwent a clinical examination, a cognitive examination, a driving‐simulator assessment, and completed questionnaires about driving history and habits. HD patients performed significantly worse than control subjects on the driving‐simulator tasks and were more likely to have been involed in a collision in the preceding 2 years (58% of HD vs. 11% of control subjects). Patients with collisions were less functionally impaired but had slower simple reaction time scores than did those without collisions. HD patients are at increased risk for accidents, but patients who have accidents are not easily distinguished from those who do not.
Internal tremor in patients with Parkinson's disease
Authors: Shulman Lisa M. , Singer Carlos , Bean Judy A. , Weiner William J.
Published: December 2004

Although sensory symptoms were not originally described in Parkinson's disease (PD), in recent years it has been increasingly recognized that painful sensations and paresthesias occur in ∼40% of patients. It has been our observation that PD patients often describe a sensation of internal tremor, a feeling of tremor inside the chest, abdomen, arms, or legs that cannot be seen. We investigated the prevalence and characteristics of internal tremor by administering a questionnaire to 100 consecutive patients with PD and 50 age‐matched controls seen in our movement disorders center. A sensation of internal tremor was present in 44% of this sample of PD patients and in 6% of the control population (p < 0.0001). The presence of internal tremor was unrelated to Unified Parkinson's Disease Rating Scale score, Hoehn and Yahr stage, duration of disease, or the presence of observable tremor. The frequency of other sensory symptoms (aching, tingling, burning) was higher in the PD patients with internal tremor (73%) than in those without (45%; p = 0.005). Internal tremor is associated with anxiety in 64% of patients (p < 0.0001). It was described as uncomfortable and was unrelieved by antiparkinsonian medication in three quarters of patients. A sensation of internal tremor is commonly reported by PD patients and should be recognized as a useful diagnostic factor in PD.
Event‐related potential P3 change in mild Parkinson's disease
Authors: Green Joanne , Woodard John L. , Sirockman Brett E. , Zakers Gregory O. , Maier Claire L. , Green Robert C. , Watts Ray L.
Published: December 2004

The purpose was to determine if unmedicated, mildly affected patients with Parkinson's disease exhibited abnormality in the P3 component of the event‐related potential, and whether such abnormality differed between younger and older patients. The study evaluated 10 younger (mean age = 43.7 years) and 10 older (mean age = 64.4 years) unmedicated patient volunteers diagnosed with idiopathic PD during the past 4 years and equal numbers of age‐, gender‐, and education‐matched controls. The auditory oddball P3 was recorded, and P3 peak amplitude, peak latency, and the component score derived from principal components analysis were analysed. Neuropsychological measures focusing on frontal lobe and memory function were obtained. Although patients did not show neuropsychological deficits, they had significantly enlarged P3 amplitude measured at Cz (p < 0.01) or Pz (p < 0.01). The P3 amplitude abnormality among patients was not affected by age. Patient P3 latency was not prolonged. The results indicate that P3 amplitude may more sensitive than neuropsychological measures for detecting subtle brain dysfunction occurring early in PD. This measure has possible utility for detecting and tracking early disease. It is hypothesized that enlarged P3 amplitude reflects abnormality in use of at tentional resources to compensate for brain dysfunction.
Painful legs and moving toes associated with tarsal tunnel syndrome and accessory soleus muscle
Authors: Pla Maria E. R. , Dillingham Timothy R. , Spellman Nicholas T. , Colon Edgar , Jabbari Bahman
Published: December 2004

Painful legs, moving toes is a rare syndrome characterized by leg pain and uncontrolled toe movements. We present a 35‐year‐old man with a 1‐year history of unilateral knee, calf, and medial ankle pain with spontaneous movements of second through fifth toes. Electrodiagnostic studies showed an absent lateral plantar nerve response consistent with a tarsal tunnel entrapment neuropathy. Cine magnetic resonance imaging revealed a large accessory soleus muscle compressing the flexor hallucis longus in the tarsal tunnel of the affected extremity. Lidocaine block of the tibial nerve at the popliteal fossa did not stop these movements, but blockade of the medial and lateral plantar nerves distal to the medial malleolus stopped them temporarily. Treatment with foot orthotics and cessation of running activity decreased the symptoms. We conclude that painful leg and moving toes in this patient resulted from a compression neuropathy at the tarsal tunnel possibly caused by a large adjacent accessory soleus muscle.
Dyskinesia and wearing‐off following dopamine D1 agonist treatment in drug‐naive 1‐Methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine‐lesioned primates
Authors: Blanchet P. J. , Grondin R. , Bédard P. J.
Published: December 2004

The motor effects of the short‐acting, full D1 agonist SKF 82958 were studied in three drug‐naive, 1‐methyl‐4‐phenyl‐1, 2, 3, 6‐tetrahydropyridine‐lesioned, parkinsonian monkeys treated for 4 weeks. D1 receptor stimulation with SKF 82958 effectively relieved parkinsonism but induced choreic dyskinesia (n = 2) and a shorter duration of motor benefit (n = 3) over time. Isolated, short‐lived D1 receptor activation would not appear to confer advantage over levodopa for dyskinesia prevention. Our data also support the involvement of postsynaptic dopamine receptor mechanisms in the wearing‐off phenomenon seen in levodopa‐treated parkinsonian patients.
Variable phenotype of rapid‐onset dystonia‐parkinsonism
Authors: Brashear A. , Farlow M. R. , Butler I. J. , Kasarskis E. J. , Dobyns W. B.
Published: December 2004

Rapid‐onset dystonia‐parkinsonism (RDP) is an autosomal dominant disorder characterized by the rapid onset of dystonic spasms and parkinsonism over a period of a few hours to weeks after their onset. We have seen two additional members of this previously reported family with RDP who present with a more gradual progression of their disorder over 6–18 months. One of these individuals experienced the rapid progression of symptoms 2 years after an initial stabilization of his condition. The RDP phenotype is variable, and presentation may be gradual in some cases. Cerebrospinal fluid neurotransmiter levels in these two and other family members suggest involvement of the dopaminergic pathways in RDP.
Olivopontocerebellar pathology in multiple system atrophy
Authors: Wenning G. K. , Tison F. , Elliott L. , Quinn N. P. , Daniel S. E.
Published: December 2004

Olivopontocerebellar atrophy (OPCA) is widely accepted as part of the neuropathological spectrum of multiple system atrophy (MSA). The distribution of affected sites in the olivopontocerebellar (OPC) system and their interrelationship remain poorly understood due to lack of quantitative studies. To further investigate the OPC pathology in MSA, we performed a morphometric analysis of 20 MSA cases and eight healthy controls. In the MSA cases, mean neuronal cell densities were significantly reduced in (medial and dorsal) accessory and principal inferior olives, pontine nuclei, cerebellar vermis (except nodulus), and hemispheres. Inferior olives and pontine nuclei were more severely affected than cerebellar Purkinje cells in most cases. Cerebellar Purkinje cells were more severely depleted in vermis rather than in hemisphere. There was a poor topographic correlation between neuronal cell loss in inferior olives and cerebellar cortex. These results suggest a primary degeneration of olivopontine nuclei and cerebellar Purkinje cells in OPCA. Inferior olives, pontine nuclei and cerebellar cortex were all significantly more severely affected in cases with a pure or predominating cerebellar syndrome (OPCA type, n = 4) compared to those with pure or predominating parkinsonism (SND type, n = 14). However, although cerebellar signs had been noted in life in only six cases, morphometry revealed OPCA in 17 of the 20 MSA brains.
Response to botulinum toxin F in seronegative botulinum toxin A—resistant patients
Authors: Greene Paul E. , Fahn Stanley
Published: December 2004

Botulinum toxin type A (btx A) injections are the most effective treatment for most patients with focal dystonia. Some patients who improve after btx A injections and later lose response have serologic evidence of antibodies to btx A with the mouse neutralization assay (seropositive patients). Another group of patients who lose response to btx A do not have detectable antibodies (seronegative patients). Seropositive patients may improve after injections of botulinum toxin type F (btx F), an alternative serotype of botulinum toxin. We treated nine seronegative resistant patients with btx F. None of these patients had muscle atrophy after injection with btx A. Five of the nine had improvement after btx F injection that was sustained for at least three consecutive btx F injections. This observation is consistent with the hypothesis that btx resistance in seronegative patients is caused by undetected antibodies to btx A. If this be the case, then there may be techniques for preventing or reversing btx resistance, as in the case of resistance to factor VIII in the treatment of hemophilia A.
Reliability of patient completion of the historical section of the unified Parkinson's disease rating scale
Authors: Louis Elan D. , Lynch Timothy , Marder Karen , Fahn Stanley
Published: December 2004

Evaluating the reliability of self‐assessed disability in patients with Parkinson's disease (PD) is important for therapeutic trials and epidemiologic surveys. This is the first study to examine the interrater reliability between physician and patient in the historical section of the Unified Parkinson's Disease Rating Scale (UPDRS). Thirty consecutive subjects with idiopathic PD self‐administered the historical section of a modified UPDRS. This instrument was then readministered to these 30 subjects by a neurologist. Interobserver reliability was assessed with the weighted kappa statistic (kw). The kw for each of the 17 items in the historical section of the UPDRS ranged from 0.63 to 1.0 (moderate to excellent agreement). Total kw = 0.83 (95% confidence interval = 0.79‐0.87). There were no correlations between kw and age, disease duration, dose of levodopa, Hoehn and Yahr score, Schwab and England score, or modified Mini‐Mental State score. Nondemented subjects with PD may reliably assess their level of disability by self‐administering the historical section of the UPDRS. This has important implications for the reliable use of self‐administered disability instruments for clinical research.
Rhythmic auditory stimulation in gait training for Parkinson's disease patients
Authors: Thaut M. H. , McIntosh G. C. , Rice R. R. , Miller R. A. , Rathbun J. , Brault J. M.
Published: December 2004

Rhythmic auditory stimulation (RAS) was used as a pacemaker during a 3‐week home‐based gaittraining program for Parkinson's disease (PD) patients (n = 15). Electromyogram (EMG) patterns and stride parameters were assessed before and after the test without RAS to evaluate changes in gait patterns. Data were compared with those of two control groups (n = 11), who either did not participate in any gait training or who participated in an internally self‐paced training program. RAS consisted of audiotapes with metronome‐pulse patterns embedded into the on/off beat structure of rhythmically accentuated instrumental music. Patients who trained with RAS significantly (p < 0.05) improved their gait velocity by 25%, stride length by 12%, and step cadence by 10% more than self‐paced subjects who improved their velocity decreased by 7% and no‐training subjects whose velocity decreased by 7%. In the RAS‐group, timing of EMG patterns changed significantly (p < 0.05) in the anterior tibialis and vastus lateralis muscles. Evidence for rhythmic entrainment of gait patterns was shown by the ability of the RAS group to reproduce the speed of the last training tape within a 2% margin of error without RAS.
Occupation, education, and Parkinson's disease: A case‐control study in an Italian population
Authors: Rocca Walter A. , Anderson Dallas W. , Meneghini Francesca , Grigoletto Francesco , Morgante Letterio , Reggio Arturo , Savettieri Giovanni , Di Perri Raoul
Published: December 2004

Current epidemiologic data on the association between occupational exposures and Parkinson's disease (PD) are inconsistent. In a case‐control study, we investigated the associations between occupation and PD and between education and PD. The cases (n = 62) were those identified in a prevalence survey (door‐to‐door, two‐phase) of three Sicilian municipalities, as of November 1, 1987. We then randomly selected from the general population two controls for each case, matched for age (±1 year), sex, and municipality (n = 124). Information on current and past occupations and education for cases and controls was obtained during the survey. Subjects who worked for most of their lives as farmers were not at increased risk of PD (OR = 0.6; 95% CI = 0.3–1.3). Neither were subjects who worked for most of their lives in other occupations (e.g., housewives, fishermen, factory workers, salesmen, craftsmen, clerks). PD was not associated with low education. Our findings suggest that farming, as a broad occupational category, does not play a major role in the causation of PD.
DC60: An example of one of the 450 cases that compose the Denny‐Brown collection of primate lesion material
Authors: Vilensky Joel A. , Gilman Sid , Morecraft Robert J.
Published: December 2004

The Denny‐Brown collection consists of films depicting the behavioral responses of ∼450 monkeys after central nervous system lesions; operative, behavioral, and neuropathologic descriptions; and histologic slides. This collection is available for use by interested investigators. This report describes one case, DC60, to provide an example of the types of material that are available and how these materials might be used better to understand the nervous system. To demonstrate how precisely the actual lesions can be defined and compared with the planned ablations, this report also includes a detailed evaluation of the extent of the lesions made in this case, based on the histologic slides and on photographs of the brain taken before histologic processing.
Rapid eye movement sleep behavior disorder preceding Parkinson's disease with therapeutic response to levodopa
Authors: Tan Adrian , Salgado Miran , Fahn Stanley
Published: December 2004

Rapid eye movement (REM) sleep behavior disorder (RBD) involves complex behavior and a loss of muscle atonia occuring during REM sleep. Half of these patients with RBD have an underlying neurologic disorder including dementia, olivopontocerebellar atrophy, subarachnoid hemorrhage, and cerebrovascular disease. Clonazepam is the drug of choice for RBD. RBD has been rarely reported to precede the onset of Parkinson's disease (PD). Three patients are presented here whose RBD preceded the onset of PD by several years, and both the symptoms of PD and RBD improved with levodopa treatment. It is postulated that levodopa ameliorates RBD by suppressing REM sleep, and it remains to be seen whether levodopa can be an alternative to clonazepam in idiopathic RBD without PD.
Ataxia without telangiectasia masquerading as benign hereditary chorea
Authors: Klein C. , Wenning G. K. , Quinn N. P. , Marsden C. D.
Published: December 2004

We report a nonconsanguineous family in whom two (of three) sons developed isolated chorea in early childhood, suggesting a diagnosis of benign hereditary chorea (BHC). However, cerebellar ataxia and oculomotor apraxia, without telangiectasia, subsequently developed. Chromosome analysis showed increased radiosensitivity in both brothers and translocations in the younger one. We conclude that ataxia with chromosomal instability may masquerade as BHC in some patients.
Effect of the putative dopamine D1 agonist and D2 antagonist FCE 23884 on Parkinson's disease
Authors: Metman L. Verhagen , Blanchet P. J. , de Jong D. , Mouradian M. M. , Chase T. N.
Published: December 2004

The ergoline derivative FCE 23884 acts as a dopamine D1 agonist in untreated parkinsonian animals and as a D2 antagonist in animals whose dopamine system is intact or levodopa treated. To evaluate whether this dual action might benefit patients with Parkinson's disease (PD) who have developed levodopa‐induced dyskinesias, the motor effects of FCE 23884 were examined in seven such individuals using a double‐blind, placebo‐controlled design. At doses up to the maximum tolerated dose (3.5 ± 0.5 mg), FCE 23884 monotherapy did not affect parkinsonian severity. On the other hand, coadministration of FCE 23884 with a mildly dyskinetic dose of levodopa, infused intravenously under steady‐state conditions, reduced the antiparkinson response by 54 ± 19% and tended to diminish dyskinesia severity. The results thus fail to suggest any useful role for FCE 23884 in the symptomatic treatment of PD. Although D2 receptor blockade provided by FCE 23884 antgonizes both the antiparkinson and dyskinesigenic responses to levodopa, the degree of D1 receptor stimulation appears insufficient to ameliorate parkinsonian symptomatology.
Neutrophil function, nitric oxide, and blood oxidative stress in Parkinson's disease
Authors: Gatto Emilia M. , Carreras María C. , Pargament Griselda A. , Riobo Natalia A. , Reides Claudia , Repetto Marisa , Pardal Manuel M. Fernandez , Llesuy Susana , Poderoso Juan J.
Published: December 2004

We studied nitrogen radical nitric oxide (.NO) release and reactive oxygen species (ROS) production by isolated neurophils after phorbol myristate acetate (PMA) stimulation in 12 newly diagnosed and nine treated Parkinson's disease (PD) patients and 10 age‐matched healthy controls. Neutrophils of both groups of PD patients had an elecated PMA‐activated release of ·NO [61 and 57%, respectively, higher than that of controls (p < 0.05)]. In contrast, H2O2 release was only significantly increased by 56% in chronically treated patients. In agreement, the maximum rate of luminoldependent chmiluminescence, which partly represents O2‐H2O2‐.NO interactions, was increased only in the treated group. When other blood markers of oxidative stress were compared, only erythrocyte catalase activity was decreased in both PD patient series by 33 and 39%, respectively (p < 0.05), whereas plasma antioxidant capacity and erythrocyte superoxide dismutase activity levels were decreased only in treated PD patients. This study suggests that neurophils express a primary alteration of ·NO release in PD patients, whereas H2O2 and oxidativestress parameters are more probably related to the evolution of PD or to effects of treatment with L‐dopa.
Sympathetic skin response and R‐R interval variability in multipele system atrophy and idiopathic Parkinson's disease
Authors: Bordet R. , Benhadjali J. , Destee A. , Hurtevent J. F. , Bourriez J. L. , Guieu J. D.
Published: December 2004

We compared autonomic function in patients with multiple system atrophy (MSA) or with idiopathic Parkinson's disease (IPD) by measuring sympathetic skin response (SSR) and R‐R interval variability (RRIV). SSR was investigated in 26 patients (13 with MSA and 13 patients with IPD). RRIV during deep breathing, Valsalva maneuver, and on standing was investigated in 20 patients (nine with MSA and 11 with IPD). MSA and IPD patients had similar age, illness duration, and therapy. Abnormal SSR was more frequent in MSA (69%) than in IPD (7.7%; X2, 10.4; p < 0.002). RRIV during deep breathing and the Valsalva maneuver was lower in MSA than in IPD (p < 0.02). RRIV during standing up was not significantly different in IPD and MSA, These differences between MSA and IPD may be due to more severe and widespread autonomic disturbance in MSA, related to more severe neuropathologic involvement of the autonomic nervous system. SSR and RRIV may aid in the differntial diagnosis of parkinsonism and help to exclude from clinical trials MSA patients clinically misdiagnosed as having IPD.
A controlled trial of remacemide hydrochloride in Huntington's disease
Authors: Kieburtz Karl , Feigin Andrew , McDermott Michael , Como Peter , Abwender David , Zimmerman Carol , Hickey Charlyne , Orme Constance , Claude Kathy , Sotack Jennie , Greenamyre J. Timothy , Dunn Cynthia , Shoulson Ira
Published: December 2004

We conducted a randomized, double‐blind, placebo‐controlled tolerability study of a N‐methyl‐D‐aspartate (NMDA) glutamate receptor ion‐channel blocker, remacemide hydrochloride, in 31 independently ambulatory patients (18 men, 13 women) with Huntington's disease (HD). Subjects were randomized to receive either placebo or active remacemide at dosages of 200 mg/day or 600 mg/day. The primary outcome measure was the proportion of subjects able to compleate the study with the assigned treatment. Remacemide was generally well tolerated, and no significant differences between the treatment arms were found in the primary outcome measure. A trend toward impovement in chorea was observed among subjects administered remacemide 200 mg/day. Based on the tolerability and safety demonstrated during this short‐trem trial, remacemide warrants more extended controlled investigation in patients with HD.
Stuttering may be a type of action dystonia
Authors: Kiziltan G. , Akalin M. A.
Published: December 2004

We observed abnormal involuntary movements, involving principally the facial and neck muscles, in 23 patients with stuttering. These movements were similar to involuntary movements seen in distinct dystinic syndromes. There was a history of stuttering in the first degree relatives of six patients. The association of stuttering with degenerative neurologic disorders and focal brain lesions, cerebral blood flow changes in patients with developmental stuttering, its occurrence as a side effect of centrally acting drugs, induction and alleviation of stuttering by mechanical perturbation, or by electrical stimulation of the thalamus, a strong genetic predisposition with male preponderance, and the statistically significant occurrence of stuttering in the family history of patients with idiopathic torsion dystonia suggest an organic basis for developmental stuttering. These findings and the reported similarities between the involuntary movements associated with stuttering and dystonic involuntary movements support the hypothesis that stuttering is a form of segmental or focal action dystonia.
The electroencephalogram in acetazolamide‐responsive periodic ataxia
Authors: Neufeld M. Y. , Nisipeanu P. , Chistik V. , Korczyn A. D.
Published: December 2004

Acetazolamide‐responsive periodic ataxia (ARPA) is a rare movement disorder, characterized by recurrent episodes of vertigo, cerebellar ataxia, and nystagmus, which has recently been characterized genetically. The pathophysiology is unknown, but it is probably not epileptic. By definition, acetazolamide produces an impressive symptomatic relief. Because of the paroxysmal nature of the disorder, EEG tracings were often obtained. We report four new cases (two familial and two sporadic) with typical ARPA (none of whom had metabolic abnormalities or continuous electrical muscle activity) and review the EEG findings associated with this disorder. EEG findings were reported in 18 kindreds and nine sporadic cases (including ours). EEG was described in 54 of the 140 affected cases and was abnormal in 52% (28/54). Most commonly seen was intermittent generalized slow activity, observed in 35% (19/54), frequently intermingled with spikes (10 cases). Other abnormalities included nonspecific mild generalized or focal slowing in seven (13%) and focal epileptic activity in two (4%) patients. The paroxysmal EEG activity frequently seen in ARPA should not establish a diagnosis of epilepsy. Although not specific, it may suggest the correct diagnosis and indicate treatment with acetazolamide.
Computational analysis of open loop handwriting movements in Parkinson's disease: A rapid method to detect dopamimetic effects
Authors: Eichhorn T. E. , Gasser T. , Mai N. , Marquardt C. , Arnold G. , Schwarz J. , Oertel W. H.
Published: December 2004

We used a computational analysis of open loop handwriting movements and a clinical rating scale for monitoring the effect of apomorphine in 16 patients with early untreated parkinsonism [subsequently L‐DOPA responsive, probable Parkinson's disease (PD)], six patients with long‐standing PD with L‐DOPA associated motor fluctuations, and seven patients with known L‐DOPA unresponsive parkinsonism. Subjects were instructed to write fluently concentric circles of ∼ 12 mm in diameter. Movements were recorded for two periods of 3 a each, using a digitizing tablet. Mean Peak velocity (Vmax) and mean peak acceleration (Amax) were determined. In addition, two sensitive indices describing the degree of automation of handwriting were derived: (a) NCV, calculated as the mean Number of Changes in direction of Velocity per half circle, and (b) NCA, the mean Number of Changes in the direction of Acceleration. Clinical rating was performed according to the Unified Parkinson's disease Rating Scale part III (UPDRS III). After apomorphine injection, the patients with early untreated probable PD showed significant improvement of Vmax' Amax' NCV, NCA, and UPDRS III scores. Likewise, the patients with long‐standing PD improved significantly in all kinematic parameters and UPDRS III scores. Patients with L‐DOPA unresponsive parkinsonism failed to change significantly in any of the parameters tested. These observations suggest that the computer‐assisted analysis of automated handwriting movements can be used as an objective quick method for quantifying dopamimetic effects on the kinematics of handwriting movements in parkinsonian patients.
Familial paroxysmal dystonic choreoathetosis revisited
Authors: Schloesser David T. , Ward Thomas N. , Williamson Peter D.
Published: December 2004

A case of familial paroxysmal dystonic choreoathetosis (PDC) documented by video/EEG monitoring is described. The father of the proband is affected by exertional cramping but not PDC, lending support to the previous hypothesis that exertional cramping may represent a “forme fruste” or the incomplete expression of PDC. Other family members affected by PDC are women, with exercise‐induced cramping alone found in two men. Two of the women report prolonged exertion as a precipitant of lengthy spells consistent with typical PDC rather than the previously described “intermediate,” exercise‐induced form of PDC. Exertional cramping in families affected by PDC may represent the variable expression of the “dystonia gene” in male members. Conversely, exercise‐induced PDC, both of the intermediate and longer form described here, may have a predilection to manifest in women.
Assessment of coenzyme q10 tolerability in huntington's disease
Authors: Feigin A. , Kieburtz K. , Como P. , Hickey C. , Abwender D. , Zimmerman C. , Steinberg K. , Shoulson I.
Published: December 2004

We performed a 6‐month open‐label trial to evaluate the tolerability and efficacy of coenzyme Q10 (CoQ) in 10 patients with Huntington's disease (HD), Subjects were evaluated at baseline, 3 months, and 6 months using the HD Rating Scale (HDRS), the HD Functional Capacity Scale (HDFCS), and standardized neuropsychological measures. Adverse events (AEs) were assessed by telephone interview every month. CoQ doses ranged from 600 to 1,200 mg per day. All subjects completed the study, although four subjects reported mild AEs, including headache, heartburn, fatigue, and increased involuntary movements. There was no singnificant effect of the treatment on the clinical ratings. The good tolerability of CoQ suggests that it is a good candidate for evaluation in liong–term clinical trials designed to slow the progression of HD.