[Clinical, multimodal electrophysiological study of a family with progressive cerebellar ataxia and late deafness and an autosomal recessive inheritance].
We described the clinical, electrophysiological (electromyography, sensory and motor nerve conduction study, somatosensory evoked potentials, brainstem auditory evoked potentials, visual evoked potentials) and neuroradiological (brain magnetic resonance) data in 3 siblings (2 males and 1 female, age range: 54-48 years) affected by autosomal recessive late onset cerebellar ataxia. The 3 patients showed at the electrophysiological examination: mild peripheral neuropathy, involvement of somatosensory pathways both on central and peripheral side. A mild cerebellar atrophy, most evident in the female more severely disabled, was found by magnetic resonance.
Ragno
M
M
Divisione di Neurologia, Ospedale C. e G. Mazzoni, Ascoli Piceno.
Curatola
L
L
Rossi
R
R
Salvolini
U
U
D001284:Atrophy / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000503:physiopathology; D002531:Cerebellum / Q000473:pathology; D004576:Electromyography; D005071:Evoked Potentials; D005260:Female; D005808:Genes, Recessive; D006312:Hearing Loss, Bilateral / Q000235:genetics* / Q000503:physiopathology; D006319:Hearing Loss, Sensorineural / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction; D010375:Pedigree; D013997:Time Factors
Studio clinico, elettrofisiologico multimodale di una famiglia affetta da atassia cerebellare progressiva ad esordio tardivo ed ereditarieta' autosomico-recessiva.