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HLA‐linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds
Author(s) -
Spadaro M.,
Giunti P.,
Lulli P.,
Frontali M.,
Jodice C.,
Cappellacci S.,
Morellini M.,
Persichetti F.,
Trabace S.,
Anastasi R.,
Morocutti C.
Publication year - 1992
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1992.tb04041.x
Subject(s) - spinocerebellar ataxia , pedigree chart , ataxia , concordance , cerebellar ataxia , degenerative disease , genetic linkage , disease , human leukocyte antigen , central nervous system disease , medicine , genetics , pathology , biology , neuroscience , antigen , gene
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.