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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)
We studied the effects of intravenous immunoglobulin (IVIg) in 12 patients with motor neuron syndromes associated with high titers of anti-GM1 antibodies. Five of the patients had conduction blocks. The study design was a double-blind, placebo-controlled, crossover trial with IVIg (0.4 g/kg body weight per day injected for 5 consecutive days). We evaluated(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)
In 1988, Kalimo et al. (Ann Neurol 23 (1988) 258)described a new type of X-linked myopathy in a Finnish family. The clinical course was characterized by slow progression of muscle weakness without loss of ambulation in childhood and no evidence of cardiac, respiratory, or central nervous system involvement. Muscle fibers were not necrotic and showed(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)