Neurophysiological study in an Italian family with autosomal dominant late-onset leukodystrophy.
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.
Leombruni
S
S
Department of Neurology, University of Turin, Italy.
Vaula
G
G
Coletti Moja
M
M
Bergui
M
M
Bergamini
L
L
Quattrocolo
G
G
D000293:Adolescent; D000328:Adult; D001933:Brain Stem / Q000503:physiopathology; D002540:Cerebral Cortex / Q000503:physiopathology; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002549:Diffuse Cerebral Sclerosis of Schilder / Q000235:genetics* / Q000503:physiopathology; D004569:Electroencephalography; D005071:Evoked Potentials / Q000502:physiology; D016057:Evoked Potentials, Auditory, Brain Stem / Q000502:physiology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction / Q000502:physiology; D010525:Peripheral Nerves / Q000503:physiopathology; D011930:Reaction Time / Q000235:genetics / Q000502:physiology; D012016:Reference Values