HLA‐linked spinocerebellar ataxia: a clinical and genetic study of large Italian kindreds
Acta Neurologica Scandinavica, ISSN: 1600-0404, Vol: 85, Issue: 4, Page: 257-265
1992
- 51Citations
- 5Captures
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Example: if you select the 1-year option for an article published in 2019 and a metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019. If you select the 3-year option for the same article published in 2019 and the metric category shows 90%, that means that the article or review is performing better than 90% of the other articles/reviews published in that journal in 2019, 2018 and 2017.
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Metrics Details
- Citations51
- Citation Indexes51
- 51
- CrossRef23
- Captures5
- Readers5
Article Description
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. Copyright © 1992, Wiley Blackwell. All rights reserved
Bibliographic Details
http://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=0026582590&origin=inward; http://dx.doi.org/10.1111/j.1600-0404.1992.tb04041.x; http://www.ncbi.nlm.nih.gov/pubmed/1585797; https://onlinelibrary.wiley.com/doi/10.1111/j.1600-0404.1992.tb04041.x; https://dx.doi.org/10.1111/j.1600-0404.1992.tb04041.x
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