A J Vos

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A case of an 11-year-old boy with an autosomal dominant form of paroxysmal kinesigenic choreoathetosis is presented. Routine EEG, sleep EEG recording, and registration of visual evoked potentials and somatosensory evoked potentials were normal. EEG with videomonitoring and registration of event-related potentials, however, showed abnormalities, which are(More)
Six patients (5 index cases and 1 sib) with a congenital motor and sensory neuropathy are described. The clinical, genetic and electrophysiological features resembled Dejerine-Sottas disease or hereditary motor and sensory neuropathy (HMSN) type III. Sural nerve biopsy of 5 patients revealed segmental demyelination and remyelination with hypertrophic(More)
Two women suffered from a similar, slowly progressive illness characterized by upper and lower motor neuron involvement, sensory disturbances, and neurogenic bladder. Radiographic examinations showed cerebral atrophy and, in one, changes on computerized tomography suggesting leukodystrophy. Sural nerve biopsies revealed axonal neuropathy associated with a(More)
A 17-month-old boy with infantile globoid cell leukodystrophy is presented. The diagnosis was made by enzymic assay. Atypical features of his disease included a delayed onset at 12 months and a slow course. At the time of diagnostic evaluation, 5 months after onset, the usual features of opisthotonos posture, slowing of nerve conduction and marked elevation(More)
The value of sural nerve biopsy in the diagnosis of metachromatic leucodystrophy (MLD) was studied in 9 MLD-patients and 4 other patients with low arylsulphatase A (ASA)-activities in the leucocytes. In 7 patients (5 of them suffering from MLD) adequate interpretation of low ASA-activity was impossible, either because one of the parents also had low(More)
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