title: [Familial cerebellar ataxia: clinical, radiological and electrophysiological findings].
abstract: A family with cerebellar ataxia of late onset occurring in four generations was observed. Neurological abnormalities included signs of cerebellar ataxia, pyramidal tract damage and damage to the peripheral motor neuron. Computerized tomography demonstrated in five out of six studied patients an image suggesting olivo-ponto-cerebellar atrophy. In the cerebellar structures, brainstem and cerebral hemispheres evidence of atrophy was detected. No correlation was demonstrated between the intensity of the clinical signs and the progression of changes in CT image. Electrophysiological investigations demonstrated changes compatible with damage to the motor and sensory fibres in the peripheral nerves and signs suggesting damage to the spinal motor neurons and pyramidal tract. These observations confirm the multilevel development of the process. The use of similar diagnostic methods will permit a more accurate classification of cerebellar ataxia and obtaining of better information for prognostication of individual cases.
authors.affiliation: Oddziału Neurologicznego CSK MSW w Warszawie.
authors.forename: K
authors.initials: K
authors.lastname: Gajkowski
authors.forename: A
authors.initials: A
authors.lastname: Rysz
authors.forename: J
authors.initials: J
authors.lastname: Walecki
authors.forename: J
authors.initials: J
authors.lastname: Bojakowski
mesh_terms: D000328:Adult; D000368:Aged; D001921:Brain / Q000000981:diagnostic imaging*; D002531:Cerebellum / Q000000981:diagnostic imaging; D004594:Electrophysiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009431:Neural Conduction; D010375:Pedigree; D013132:Spinocerebellar Degenerations / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology; D013979:Tibial Nerve / Q000503:physiopathology*; D014057:Tomography, X-Ray Computed
vernacular_title: Rodzina z bezładem mózdzkowym. Ocena kliniczna, radiologiczna i elektrofizjologiczna.