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The effect of placing parallel lines on the walking surface on parkinsonian gait was evaluated. To identify the kind of visual cues (static or dynamic) required for the control of locomotion, we tested two visual conditions: normal lighting and stroboscopic illumination (three flashes/s), the latter acting to suppress dynamic visual cues completely. Sixteen(More)
Ataxia-ocular apraxia 2 (AOA2) was recently identified as a new autosomal recessive ataxia. We have now identified causative mutations in 15 families, which allows us to clinically define this entity by onset between 10 and 22 years, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia and elevated alpha-fetoprotein (AFP). Ten of the(More)
OBJECTIVE To assess the frequency and disability caused by nonmotor fluctuations (NMF) in PD. METHODS A structured questionnaire was administered to 50 patients with PD with motor fluctuations (MF), focused on 54 nonmotor symptoms classified in three subgroups: 26 dysautonomic, 21 cognitive and psychiatric, and seven pain/sensory NMF. The link between(More)
Mitochondrial DNA instability disorders are responsible for a large clinical spectrum, among which amyotrophic lateral sclerosis-like symptoms and frontotemporal dementia are extremely rare. We report a large family with a late-onset phenotype including motor neuron disease, cognitive decline resembling frontotemporal dementia, cerebellar ataxia and(More)
The present study tested the hypothesis that there is increased visual dependence perceptually in patients with Parkinson's disease. We also evaluated whether the visual control of posture and locomotion was related to perceptual visual field dependence. 21 patients with idiopathic Parkinson's disease and 22 age-matched normal subjects were compared on(More)
Electrical and contractile properties of motor units (MU) were studied in the extensor carpi radialis muscles during voluntary contraction. The discharge of 234 single MUs was recorded in 11 patients with sporadic amyotrophic lateral sclerosis (ALS) and compared with that of the 260 MUs recorded in 12 healthy control subjects. Characteristics of the MU(More)
Gait analysis of 13 patients affected by Parkinson's disease (PD) and 7 healthy elderly volunteers was performed with a fully automatic motion analyser. The recording included stride parameters for walking velocity, stride length, stride duration and swing time. Maximal amplitudes of rotation of the hip, knee and ankle were also recorded. The analysis was(More)
OBJECTIVE To study the diagnostic value of transcranial magnetic stimulation (TMS) in a group of patients with lower motor neuron disease (LMND). Among LMND, several chronic immune mediate motor neuropathies may simulate amyotrophic lateral sclerosis (ALS). METHODS Forty patients with LMND were included TMS was performed at the first visit. The patients(More)
It has been suggested previously that multifocal motor neuropathy (MMN) without conduction block (CB) or other features of demyelination is axonal in nature. Conventional transcranial magnetic stimulation (TMS) and the triple-stimulation technique (TST) performed on 10 MMN patients without CB revealed a proximal focal CB in 4 patients. In 3 other patients,(More)
OBJECTIVE To determine whether rituximab 375 mg/m(2) was efficacious in patients with immunoglobulin M (IgM) anti-myelin-associated glycoprotein antibody demyelinating neuropathy (IgM anti-MAG demyelinating neuropathy). METHODS Fifty-four patients with IgM anti-MAG demyelinating neuropathy were enrolled in this randomized, double-blind, placebo-controlled(More)