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PubMed1994

Movement disorders in childhood organic acidurias. Clinical, neuroimaging, and biochemical correlations.

Over the last 5 years the Pediatric Neurology service at King Faisal Specialist Hospital and Research Centre (KFSH&RC) has seen 131 infants and children with movement disorders. Forty-nine (37%) had identifiable biochemical defects, 25 of which were organic acidemias. Nineteen of 29 patients with dystonia had organic acidemias, primarily glutaric aciduria type 1 (7 patients), bilateral striatal necrosis (4 patients), and 3-methyl glutaconic aciduria (3 patients). All patients with parkinsonian rigidity (n = 11) had organic acidemias; again, the greatest number accounted for by glutaric aciduria type 1 (7 patients), who had both parkinsonian rigidity combined with dystonia. Myoclonus occurred in only 1 of 25 and chorea in 7 of 25 patients with organic acidemias. At the least all patients had bilateral lesions of putamen and head of caudate, seen best in MRI brain scans as increased T2 signal intensities with normal volume, and later with volume loss.

Acidosis↗
PubMed2007

Movement Disorder Society-sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS): Process, format, and clinimetric testing plan.

This article presents the revision process, major innovations, and clinimetric testing program for the Movement Disorder Society (MDS)-sponsored revision of the Unified Parkinson's Disease Rating Scale (UPDRS), known as the MDS-UPDRS. The UPDRS is the most widely used scale for the clinical study of Parkinson's disease (PD). The MDS previously organized a critique of the UPDRS, which cited many strengths, but recommended revision of the scale to accommodate new advances and to resolve problematic areas. An MDS-UPDRS committee prepared the revision using the recommendations of the published critique of the scale. Subcommittees developed new material that was reviewed by the entire committee. A 1-day face-to-face committee meeting was organized to resolve areas of debate and to arrive at a working draft ready for clinimetric testing. The MDS-UPDRS retains the UPDRS structure of four parts with a total summed score, but the parts have been modified to provide a section that integrates nonmotor elements of PD: I, Nonmotor Experiences of Daily Living; II, Motor Experiences of Daily Living; III, Motor Examination; and IV, Motor Complications. All items have five response options with uniform anchors of 0 = normal, 1 = slight, 2 = mild, 3 = moderate, and 4 = severe. Several questions in Part I and all of Part II are written as a patient/caregiver questionnaire, so that the total rater time should remain approximately 30 minutes. Detailed instructions for testing and data acquisition accompany the MDS-UPDRS in order to increase uniform usage. Multiple language editions are planned. A three-part clinimetric program will provide testing of reliability, validity, and responsiveness to interventions. Although the MDS-UPDRS will not be published until it has successfully passed clinimetric testing, explanation of the process, key changes, and clinimetric programs allow clinicians and researchers to understand and participate in the revision process.

Disability Evaluation↗
PubMed1995

CT guided thalamotomy for movement disorders in multiple sclerosis: problems and paradoxes.

Unilateral ventrolateral (VL) thalamotomy for medically refractory tremorigenic movement disorders (MD) was performed in 9 patients with established multiple sclerosis. All patients had abolition of their coarse action/kinetic tremor with improvement in arm and hand function. In two patients some intention tremor either remained or was unmasked. Target coordinates ranged from 2 to -5 mm relative to the intercommissural line and from 8 to 16 mm lateral to the midline. There were no permanent surgical complications and the one stage procedure under local anesthetic was well tolerated. Although there were also improvements in posture and speech in some patients the overall and longer term functional impact of surgery was, except in two patients, disappointing. Since multiple sclerosis is a spectrum of disease entities, and tremor may be only one manifestation of the disease, clinical studies that use comprehensive patient assessments and objective criteria may allow prediction of longer term functional outcome in specific patient subgroups. The specific aims of the stereotactic procedure in severely disabled patients with MS and MD must also be clear.

Activities of Daily Living↗
PubMed2003

Systems-level studies of movement disorders in dystonia and Parkinson's disease.

For many years pathophysiological studies on patients with movement disorders were viewed as inferior to those in animal models because, given the complexity of dealing with the complete interconnected CNS, it was difficult to assign any particular physiological abnormality exclusively to the site of a known lesion. More recently this has come to be seen as an advantage. All the articles reviewed below focus on how healthy parts of the CNS react to damage at a distance, with the result that we are now beginning to have much more insight into how these reactions both compensate and exacerbate the primary deficit.

Dystonia↗
PubMed1986

Open label evaluation of cannabidiol in dystonic movement disorders.

Cannabidiol (CBD), a nonpsychoactive cannabinoid of Cannabis, was given to 5 patients with dystonic movement disorders in a preliminary open pilot study. Oral doses of CBD rising from 100 to 600 mg/day over a 6 week period were administered along with standard medication. Dose-related improvement in dystonia was observed in all patients and ranged from 20 to 50%. Side-effects of CBD were mild and included hypotension, dry mouth, psychomotor slowing, lightheadedness, and sedation. In 2 patients with coexisting Parkinsonian features, CBD at doses over 300 mg/day exacerbated the hypokinesia and resting tremor. CBD appears to have antidystonic and Parkinsonism-aggravating effects in humans.

Adult↗
PubMed2005

Adult onset spinocerebellar ataxia in a Canadian movement disorders clinic.

BACKGROUND: The spinocerebellar ataxias (SCAs) are a genetically and clinically heterogeneous group of neurodegenerative disorders. Relative frequencies vary within different ethnic groups and geographical locations. OBJECTIVES: 1) To determine the frequencies of hereditary and sporadic adult onset SCAs in the Movement Disorders population; 2) to assess if the fragile X mental retardation gene 1 (FMR1) premutation is found in this population. METHODS: A retrospective chart review of individuals with a diagnosis of adult onset SCA was carried out. Testing for SCA types 1, 2, 3, 6, 7, and 8, Dentatorubral-pallidoluysian atrophy (DRPLA), Friedreich ataxia and the FMR1 expansion was performed. RESULTS: A total of 69 patients in 60 families were identified. Twenty-one (35%) of the families displayed autosomal dominant and two (3.3%) showed autosomal recessive (AR) pattern of inheritance. A positive but undefined family history was noted in nine (15%). The disorder appeared sporadic in 26 patients (43.3%). In the AD families, the most common mutation was SCA3 (23.8%) followed by SCA2 (14.3%) and SCA6 (14.3%). The SCA1 and SCA8 were each identified in 4.8%. FA was found in a pseudodominant pedigree, and one autosomal recessive pedigree. One sporadic patient had a positive test (SCA3).Dentatorubral-pallidoluysian atrophy and FMR1 testing was negative. CONCLUSION: A positive family history was present in 53.3% of our adult onset SCA patients. A specific genetic diagnosis could be given in 61.9% of dominant pedigrees with SCA3 being the most common mutation, followed by SCA2 and SCA6. The yield in sporadic cases was low. The fragile X premutation was not found to be responsible for SCA.

Adult↗
PubMed1986

Oculomasticatory myorhythmia: a unique movement disorder occurring in Whipple's disease.

We describe two patients and a previously reported patient who acquired unique pendular vergence oscillations of the eyes and concurrent contractions of the masticatory muscles, i.e., oculomasticatory myorhythmia (OMM). The smooth disjunctive eye movements cycled with a frequency of 0.8 to 1.2 Hz. An analysis of peak velocities (15 to 200 degrees/sec) with respect to peak amplitudes (5 to 25 degrees) revealed dynamics characteristic of normal vergence movements. The pathological alterations resulting in pendular vergence oscillations implicate a separately functioning, physiologically normal vergence system within the brainstem. In addition to paralysis of vertical gaze, each patient also experienced progressive somnolence and intellectual deterioration. An intestinal biopsy in 1 patient established a diagnosis of Whipple's disease, which led to appropriate treatment and amelioration of the OMM. A pathological diagnosis of Whipple's disease of the central nervous system was made in the other 2 patients; results of an intestinal biopsy in one of these patients were normal. No patient had palatal myoclonus, and olivary pseudohypertrophy was not found in two autopsy examinations. Thus, OMM is a distinct movement disorder and has been recognized only in Whipple's disease. We conclude that patients with OMM should be treated presumptively for Whipple's disease of the central nervous system, even if a jejunal biopsy is normal.

Eye Movements↗
PubMed2006

From selective thalamotomy with microrecording to gamma thalamotomy for movement disorders.

A theoretical and practical process from microrecording-guided thalamotomy to gamma knife thalamotomy was briefly reviewed. Based on our own experiences of selective thalamotomy with microrecording, we are trying to apply gamma knife to the treatment of movement disorders. An important technical problem is how to determine the exact thalamic target. At first we refer to the posterior commissure and coordinate of the standard atlas for approximately determining the lateral part of the ventral intermediate nucleus. Then the point is further corrected by anatomical landmark (45% of the thalamic length) to compensate the individual difference. A final lesion is made by gamma knife using a 4-mm collimator, 130 Gy in 1 shot. The average delay of clinical improvement is about 6 months after irradiation. Thus far the results are satisfactory, being 80-85% successful without any noticeable complications. Only 3 days of hospitalization with minimal invasion could be a big advantage for the patient. Further technical progress may improve the clinical results in the future.

Humans↗
PubMed2002

Evolving spectrum of movement disorders in extrapontine and central pontine myelinolysis.

Extrapontine (EPM) and central pontine myelinolysis (CPM) are rare and frequently related to rapid correction of hyponatremia. We describe a 60-year-old woman who developed an unusual evolving spectrum of movement disorders secondary to EPM and CPM following intravenous sodium replacement therapy for severe hyponatremia. She presented initially with confusion, generalized coarse postural limb tremor, myoclonic jerks and quadriparesis. Subsequently her mental state improved and her tremor and weakness resolved. Over the following months, she developed progressive painful dystonia of her facial musculature and lower limbs. This gradually became generalized and associated with choreoathethosis in her limbs. In addition, she had increasing bradykinesia and rigidity, which responded poorly to levodopa treatment. Our case illustrates that while the myelin destruction occurs during the initial insult of the osmotic demyelinating process, its delayed clinical effects resulting from ineffective reorganization of neuronal structures may be progressive, evolve with time, and difficult to treat.

Disease Progression↗
PubMed2004

Rhythmic movement disorder and cyclic alternating pattern during sleep: a video-polysomnographic study in a 9-year-old boy.

We report on polysomnographic findings in a 9-year-old boy affected by rhythmic movement disorder. The subject's rhythmic movements were found to be intimately linked to unstable nonrapid eye movement N-REM sleep, as shown by their close association with the A phases of the cyclic alternating pattern. We examine the complex interactions between arousal mechanisms and rhythmic movements occurring during sleep.

Child↗
PubMed2003

Unclassifiable parkinsonism in two European tertiary referral centres for movement disorders.

In view of reports on high frequencies of atypical parkinsonism from different parts of the world and in non-white communities in the United Kingdom, we have prospectively surveyed 1,000 consecutive patients with parkinsonism presenting to two European tertiary referral centres for movement disorders (London, UK, and Barcelona, Spain). The aims of our study were to assess in a cross-sectional, prospective manner the proportion of patients who could not be classified diagnostically, to identify the factors precluding classification, and to determine which diagnostic measures would increase the rate of classifiable cases. Diagnoses were established using published clinical diagnostic criteria for Parkinson's disease (PD) and for other conditions associated with parkinsonism. Twenty-nine patients in London and 25 in Barcelona were initially considered unclassifiable; nine could be classified after further investigations. Levodopa (L-dopa) responsiveness was found to have a pivotal role in establishing a clinical diagnosis in previously unclassifiable patients: In those 45 patients who remained unclassifiable, failure to respond to L-dopa without other exclusion criteria for PD was the most common finding in each centre. Our results show that 4.0 to 5.0% of parkinsonian patients presenting to specialist clinics in Western Europe cannot be categorised using currently available clinical diagnostic criteria for parkinsonian syndromes. Prolonged follow-up and neuropathological diagnosis will be needed to determine whether all these cases represent atypical presentations of established clinico-pathological entities or whether some represent unrecognised new disorders.

Age of Onset↗
PubMed2003

Natural and nosocomial infection in a patient with West Nile encephalitis and extrapyramidal movement disorders.

Since its first recognition in North America in 1999, West Nile virus (WNV) has spread rapidly across the continent, but in many communities, rapid diagnostic tests for detection of WNV infection are not fully available. We describe a patient with extrapyramidal movement disorders and changes in the basal ganglia noted on magnetic resonance images that are characteristic of other flavivirus encephalitides and may help in the recognition of patients with West Nile encephalitis. Detailed molecular analysis suggested that, although our patient received a blood transfusion infected with WNV, the virus that caused his initial infection and encephalitis was probably acquired naturally from a mosquito.

Animals↗
PubMedDate not supplied

Sleep breathing and sleep movement disorders masquerading as insomnia in sexual-assault survivors.

A descriptive, hypothesis-generating study was performed with 156 female sexual-assault survivors who suffered from insomnia, nightmares, and posttraumatic stress disorder (PTSD). They completed 2 self-report sleep questionnaires to assess the potential presence of intrinsic sleep disorders. Seventy-seven percent of the sample (120 of 156) endorsed additional sleep complaints, besides their insomnia symptoms, that indicate the potential presence of sleep-disordered breathing ([SDB] 81 of 156, 52%) and sleep-related movement disorders ([SMD] 94 of 156, 60%). The potential for SDB was strongly correlated with the body mass index (BMI), an increase in arousal symptoms, and greater total PTSD severity. In some sexual-assault survivors, the relationship between sleeplessness and posttraumatic stress may be caused or exacerbated by intrinsic sleep disorders, and not be solely a function of psychophysiological insomnia--the traditional diagnostic term usually offered to explain the sleep problems associated with PTSD. Prevalence studies that use objective diagnostic evaluations such as polysomnography (PSG) are needed to test these hypotheses.

Adolescent↗
PubMed1985

A prevalence survey of Parkinson's disease and other movement disorders in the People's Republic of China.

A door-to-door survey was conducted in six cities of the People's Republic of China. A total of 63,195 individuals were sampled during 1983 to determine the prevalence of major neurologic disorders. The survey involved a complete census, followed by a pretested interview and brief screening examination with a high level of sensitivity for detecting individuals with frequently occurring neurologic diseases, including movement disorders. Subjects with abnormal responses or findings were examined by a neurologist. There was 100% cooperation among the study subjects. Twenty-eight individuals alive on prevalence day (Jan 1, 1983) were identified as having Parkinson's disease, yielding an age-adjusted (to the 1960 US population) prevalence ratio of 57 per 100,000 population. All subjects were older than the age of 50 years. After the fifth decade of life, the age-specific prevalence ratios increased with age.

Aged↗
PubMed1995

Occupational neurotoxicity and movement disorders: a historical perspective.

It is shown that while metal toxicity has been known to be associated with risks to the health of miners and other workers for over a thousand years generally little was done before the 19th century to enquire into the relationship between lead, mercury, and manganese and neurological movement disorders. Reasons for this are suggested.

History, Ancient↗
PubMed1991

Computed tomography guided stereotactic thalamotomy using the Brown-Roberts-Wells system for nonparkinsonian movement disorders. Technical note.

A technique is described for stereotactic thalamotomy, using the Brown-Roberts-Wells (BRW) system and computed tomography (CT) without the need for ventriculography. Previous reports have suggested that the BRW system lacks sufficient accuracy (compared with ventriculography) for CT-directed functional neurosurgery. However, using this method, our findings demonstrate excellent clinical accuracy and safety in 12 consecutive patients with nonparkinsonian movement disorders.

Accidents, Traffic↗
PubMed2000

Valproate for sleep consolidation in periodic limb movement disorder.

In this study, open-label valproate (VPA) was administered to patients as a treatment for periodic limb movement disorder (PLMD). Six patients aged 28 to 62 years with complaints of sleep disturbance and at least five periodic limb movements (PLMs) per hour of sleep underwent polysomnograms (PSGs) with and without low-dose VPA treatment (125-600 mg at bedtime). After a baseline PSG, patients received VPA therapy from 2 weeks to 14 months, until the time of the follow-up PSG on VPA (median, 5 months; mean, 6 months). All six patients experienced subjective improvement in daytime alertness. Sleep efficiency was improved from 76% to 88% (p = 0.003), stage 1 (light) sleep decreased from 26% to 13% (p = 0.04), stage 3 and 4 (deep) sleep increased from 19% to 30% (p = 0.01), and rapid eye movement sleep was unchanged. There was a trend toward a reduction in the number of PLMs per hour of sleep and in the percentage of arousals associated with PLMs. All of the patients continued taking VPA after the PSGs were completed. One patient discontinued VPA 1 month after completion of the last PSG because of short-term side effects, and one patient stopped VPA 22 months after the last PSG because of weight gain. Thus, these data indicate that VPA has a long-term beneficial effect on sleep consolidation in patients with PLMD.

Adult↗