Dystonia after striatopallidal and thalamic stroke: clinicoradiological correlations and pathophysiological mechanisms.

Objective: To establish the pathophysiological mechanisms of striatopallidal and thalamic dystonia.

Methods: Five patients from among 26 who presented (between March 1987 and July 1996) with focal dystonia, segmental dystonia, or hemidystonia caused by a single localised vascular lesion, were selected. Patients with lesions with indefinite boundaries, and diffuse, or multiple, or large brain lesions were excluded.

Creutzfeldt-Jakob disease: neurophysiologic visual impairments.

Objective: The predictive value of electrophysiologic visual testing in Creutzfeldt-Jakob disease (CJD) was investigated, and the retinal pathologic findings in three cases are reported.

Background: The fatal prognosis of CJD, its transmissibility, and the lack of treatment make early diagnosis essential in averting human-to-human transmission. Electroretinogram and visual evoked potentials have been studied in few cases of CJD.

["Primary" orthostatic tremor. 10 clinical electrophysiologic observations].

Orthostatic tremor is an unusual kind of potentially disabiling tremor appearing immediately when standing. Clinical examination is normal in primary form except for wide base standing and unsteadiness which disappear when walking. Arm tremor resembling essential tremor is found present in one third of cases.

Influence of chronic administration of L-DOPA on event-related desynchronization of mu rhythm preceding voluntary movement in Parkinson's disease.

The spatiotemporal pattern of event-related desynchronization (ERD) during the motor preparation period preceding a self-paced voluntary wrist-flexion was compared in two groups of 10 right and 10 left hemiparkinsonian patients, before and after chronic administration of L-DOPA. ERD was computed in the 9-11 Hz frequency band from 11 source derivations covering the medial frontocentral, central and parietocentral areas, during two successive left and right experimental conditions (100 self-paced wrist flexions). In the two groups ERD appeared with a shorter latency over the contralateral primary sensorimotor area, when the movements were performed with the akinetic hand.

Genetic polymorphisms adjacent to the CAG repeat influence clinical features at onset in Huntington's disease.

Objectives: To evaluate possible influences of CCG and delta2642 glutamic acid polymorphisms adjacent to the (CAG)n trinucleotide repeat in Huntington's disease gene IT15 on some clinical features (age and symptoms) at onset.

Methods: 84 patients and a control group of 68 unaffected relatives were studied. Patients all belonged to a group of affected persons tested for molecular confirmation of Huntington's disease.

Do visual-evoked potentials and spatiotemporal contrast sensitivity help to distinguish idiopathic Parkinson's disease and multiple system atrophy?

A large number of patients with Parkinson's disease were reported to have abnormal visual-evoked potentials (VEPs) and spatiotemporal contrast sensitivity (STCS) suggesting dopaminergic deficiency in the visual pathway, probably the retina. Until now, VEPs and STCS have not been studied in multiple system atrophy (MSA). We investigated 12 patients with idiopathic Parkinson's disease (IPD) and 12 patients with MSA.

Hereditary chin trembling or hereditary chin myoclonus?

Hereditary chin trembling is a rare autosomal dominant disease often considered as an "essential tremor variant". The clinical and neurophysiological data obtained in a new white family lead to the suggestion that this abnormal involuntary movement is a focal variant of hereditary essential myoclonus.

PET studies in epilepsy.

Positron emission tomography (PET) plays a major role in the pre-surgical evaluation of patients with refractory partial epilepsy. In this review we discuss the limitations of PET data, the possibilities of fluorodeoxyglucose PET studies, neuroreceptor PET studies and alternatives, such as SPECT and MRI.

Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system?

Background: Striatal necrosis has been related to various clinical syndromes, with acute or chronic progression, and juvenile or late occurrence, but the most common type is Leigh's encephalopathy.

Methods: Between 1967 and 1995, six out of seven related patients with chronic familial dystonia were examined. MRIs were performed in four, between 1992-1994.

Abnormal cortical activation during planning of voluntary movement in patients with epilepsy with focal motor seizures: event-related desynchronization study of electroencephalographic mu rhythm.

Purpose: The spatiotemporal distribution of EEG mu rhythm desynchronization was analyzed in patients with partial epilepsy to determine whether frequent focal motor seizures could induce a change of cortical activation during the planning of a voluntary movement.

Methods: The event-related desynchronization (ERD) of the mu rhythm was quantified during a self-paced voluntary movement of the thumb. The results were compared between two groups of patients with epilepsy: in one group (n = 12), the patients had frontal lobe epilepsy with frequent focal motor seizures (FMS); in the second group (n = 12), they had temporal lobe epilepsy (TLE) with complex partial seizures but no ictal movement disorder.

Long-term complementation of DNA repair deficient human primary fibroblasts by retroviral transduction of the XPD gene.

Due to their limited life time in culture and their relative resistance to DNA transfection, primary fibroblasts derived from UV-hypersensitive patients could not be used for cloning DNA repair gene and studying stable complementation with wild-type DNA repair genes. Primary cells were only used for complementation analysis after transient expression through cell fusion. DNA microinjection and transfection.

Multiple calcified brain metastases revealing a lung carcinoma.

The case of a 50-year-old man with multiple calcified brain metastases revealing an undifferentiated lung carcinoma after a delay of two months, is reported. A slow and progressive clinical evolution was noted. Eight months after the brain lesion had been discovered, intramedullary and epidural spinal metastases appeared.

Effect of thalamic stimulation on gait in Parkinson disease.

Objective: To assess the influence of ventral intermediate thalamic nucleus stimulation on gait in idiopathic Parkinson disease.

Design: Clinical and physiological assessments were compared in patients with and without ventral intermediate thalamic nucleus stimulation.

Setting: The research clinic of a university department of gait analysis.

Lack of relation between genetic polymorphism of cytochrome P-450IID6 and sporadic idiopathic Parkinson's disease.

We investigated genetic polymorphism of the cytochrome P-450 CYP2D6 gene from white patients with idiopathic Parkinson's disease (IPD). The mutations of the CYP2D6 gene associated with the poor metabolizer (PM) phenotype of the debrisoquine/sparteine polymorphism were analyzed in DNA of 130 IPD patients by a polymerase chain reaction (PCR)-based DNA amplification combined with Xba I restriction fragment length polymorphism (RFLP) analysis in 105 patients. Another mutation located in exon 6 was analyzed by Hha I RFLP in 94 IPD patients.

Sympathetic skin response and R-R interval variability in multiple system atrophy and idiopathic Parkinson's disease.

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).

Movement related desynchronisation pattern preceding voluntary movement in untreated Parkinson's disease.

Objective: To study planning of movement in Parkinson's disease.

Methods: The spatiotemporal pattern of movement related desynchronisation (MRD) preceding a self paced voluntary wrist flexion was compared between two groups of 10 untreated right and left hemiparkinsonian patients receiving no treatment and 10 control subjects. The MRD was computed in the 9 to 11 Hz frequency band from 11 source derivations covering the frontocentral, central, and parietocentral areas, during two successive left and right experimental conditions.