Neurophysiological study in an Italian family with autosomal dominant late-onset leukodystrophy
| Autor: | S, Leombruni, G, Vaula, M, Coletti Moja, M, Bergui, L, Bergamini, G, Quattrocolo |
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| Rok vydání: | 1998 |
| Předmět: |
Adult
Cerebral Cortex Chromosome Aberrations Male Adolescent Neural Conduction Chromosome Disorders Diffuse Cerebral Sclerosis of Schilder Electroencephalography Middle Aged Reference Values Evoked Potentials Auditory Brain Stem Reaction Time Humans Female Peripheral Nerves Evoked Potentials Brain Stem Genes Dominant |
| Zdroj: | Electromyography and clinical neurophysiology. 38(3) |
| ISSN: | 0301-150X |
| Popis: | Evoked potentials (EPs) and nerve conduction velocities (NCV) were evaluated in 8 affected and 10 asymptomatic members of a new Italian family with an adult-onset autosomal dominant leukodystrophy of uncertain nosography. NCV studies did not show anomalies. Various EPs abnormalities were found in all the symptomatic patients (increase of interpeak latency and/or loss of cortical responses), according with a myelin disorder. Among the asymptomatic subjects 3/10 (30%) showed similar anomalies at auditory brainstem EPs (increase of I-III/I-V/III-V interval). Two of these patients had normal brain MRI. This datum require further confirms (very low penetrance of the disease?), but it remarks the importance of a functional study of SNC in order to obtain elements not usually given from clinical and neuroradiological study. |
| Databáze: | OpenAIRE |
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