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[Clinical, multimodal electrophysiological study of a family with progressive cerebellar ataxia and late deafness and an autosomal recessive inheritance].
- Source :
-
Acta neurologica [Acta Neurol (Napoli)] 1992 Aug-Dec; Vol. 14 (4-6), pp. 431-9. - Publication Year :
- 1992
-
Abstract
- 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.
- Subjects :
- Atrophy pathology
Cerebellar Ataxia physiopathology
Cerebellum pathology
Female
Genes, Recessive
Hearing Loss, Bilateral physiopathology
Hearing Loss, Sensorineural physiopathology
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Neural Conduction
Pedigree
Time Factors
Cerebellar Ataxia genetics
Electromyography
Evoked Potentials
Hearing Loss, Bilateral genetics
Hearing Loss, Sensorineural genetics
Subjects
Details
- Language :
- Italian
- ISSN :
- 0001-6276
- Volume :
- 14
- Issue :
- 4-6
- Database :
- MEDLINE
- Journal :
- Acta neurologica
- Publication Type :
- Academic Journal
- Accession number :
- 1293986