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HLA-LINKED SPINOCEREBELLAR ATAXIA - A CLINICAL AND GENETIC-STUDY OF LARGE ITALIAN KINDREDS

SPADARO, M; GIUNTI, P; LULLI, P; FRONTALI, M; JODICE, C; CAPPELLACCI, S; MORELLINI, M; ... MOROCUTTI, C; + view all (1992) HLA-LINKED SPINOCEREBELLAR ATAXIA - A CLINICAL AND GENETIC-STUDY OF LARGE ITALIAN KINDREDS. ACTA NEUROL SCAND , 85 (4) 257 - 265.

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Abstract

Five families with late onset autosomal dominant spinocerebellar ataxia, were studied. Linkage between the disease and HLA loci on the short arm of chromosome 6 was shown in the two largest pedigrees. Clinical study of 26 patients and neuropathological study in one are reported. The disease was characterized by cerebellar and pyramidal involvement variably associated with cranial nerve and peripheral nervous system disorders. A remarkable concordance of the main clinical features was observed in patients with similar disease duration. Comparison with previous reports of HLA-linked spinocerebellar ataxia kindreds showed differences in clinical phenotypes. Although these might be due to genetic variation, the hypothesis is suggested that the phenotype might appear more homogeneous if disease duration is taken into account.

Type: Article
Title: HLA-LINKED SPINOCEREBELLAR ATAXIA - A CLINICAL AND GENETIC-STUDY OF LARGE ITALIAN KINDREDS
Keywords: HLA-LINKED SCA, LATE ONSET AUTOSOMAL DOMINANT SCA, OPCA, MULTILOCUS LINKAGE ANALYSIS, HEREDITARY ATAXIA, CEREBELLAR-ATAXIA, LATE ONSET, HETEROGENEITY, FAMILY, AGE
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/80450
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