The autosomal dominant spinocerebellar ataxias (SCAs) are a clinically heterogeneous group of neurodegenerative diseases. Since the first description by Pierre Marie in 1893, the classification has been controversial. This is mainly due to the variety of symptoms observed and the inter- and intrafamilial variability in age of onset, clinical features, neuropathological and biochemical findings. Up to the beginning of 1993, two loci had been identified: one on the short arm of chromosome 6 and more recently a second locus assigned to the long arm of chromosome 12 in a large Cuban family. These loci are termed SCA 1 and SCA 2, respectively. / We have studied four large families from different ethnic backgrounds segregating an autosomal dominant form of SCA. A total of 266 individuals, including 65 affecteds, were ascertained. We found clinical similarities among the four families. All kindreds showed progressive cerebellar ataxia, with a mean age onset in the fourth or fifth decades of life. / We performed detailed clinical, genetic and linkage analyses in these families in order to assess the clinical and genetic heterogeneity. (Abstract shortened by UMI.)
| Identifer | oai:union.ndltd.org:LACETR/oai:collectionscanada.gc.ca:QMM.27372 |
| Date | January 1996 |
| Creators | Lopes-Cendes, Iscia. |
| Contributors | Andermann, Eva (advisor) |
| Publisher | McGill University |
| Source Sets | Library and Archives Canada ETDs Repository / Centre d'archives des thèses électroniques de Bibliothèque et Archives Canada |
| Language | English |
| Detected Language | English |
| Type | Electronic Thesis or Dissertation |
| Format | application/pdf |
| Coverage | Master of Science (Department of Neurology and Neurosurgery.) |
| Rights | All items in eScholarship@McGill are protected by copyright with all rights reserved unless otherwise indicated. |
| Relation | alephsysno: 001565176, proquestno: MQ29747, Theses scanned by UMI/ProQuest. |
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