Article
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.
Neurology - 20 Mar 2007
Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson E-M, Schüle B, Langston J W, Middleton F A, Ross O A, Hulihan M, Gasser T, Farrer M J
Abstract excerpt
BACKGROUND: The "Lister family complex," an extensive Swedish family with autosomal dominant Parkinson disease, was first described by Henry Mjönes in 1949. On the basis of clinical, molecular, and genealogic findings on a Swedish and an American family branch, we provide genetic evidence that explains the parkinsonism in this extended pedigree. METHODS: Clinical methods included a detailed neurologic exam of the...
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