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AUTOSOMAL DOMINANT PURE CEREBELLAR-ATAXIA - NEUROLOGICAL AND GENETIC-STUDY

FRONTALI, M; SPADARO, M; GIUNTI, P; BIANCO, F; JODICE, C; PERSICHETTI, F; COLAZZA, GB; ... MOROCUTTI, C; + view all (1992) AUTOSOMAL DOMINANT PURE CEREBELLAR-ATAXIA - NEUROLOGICAL AND GENETIC-STUDY. BRAIN , 115 1647 - 1654.

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Abstract

A family with late-onset autosomal dominant pure cerebellar ataxia was studied both neurologically and genetically. Neuroimaging and electrophysiological results were in agreement with the clinical evidence showing involvement of the cerebellar system only, even many years after onset. No atrophy of inferior olives was observed by magnetic resonance imaging, while cerebellar atrophy was extremely marked. A very slow disease progression was observed in all patients. The disease can be differentiated from autosomal dominant olivo-ponto-cerebellar atrophies, and in particular from spinocerebellar ataxia type 1 mapping on chromosome 6p, which shows an early multisystemic involvement and a more rapid progression toward inability. A genetic study of the family with the 6p DNA marker D6S89 closely linked to the spinocerebellar ataxia type 1 locus was performed. Results showed significant exclusion of a linkage between the disease and the marker within a distance of 8.5 % recombination, indicating that genetic heterogeneity underlies phenotypic differences.

Type: Article
Title: AUTOSOMAL DOMINANT PURE CEREBELLAR-ATAXIA - NEUROLOGICAL AND GENETIC-STUDY
Keywords: SPINOCEREBELLAR ATAXIA, LINKAGE, KINDREDS, LOCUS
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/80441
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