Article
VAMP1 mutation causes dominant hereditary spastic ataxia in Newfoundland families.
American journal of human genetics - 7 Sept 2012
Bourassa Cynthia V, Meijer Inge A, Merner Nancy D, Grewal Kanwal K, Stefanelli Mark G, Hodgkinson Kathleen, Ives Elizabeth J, Pryse-Phillips William, Jog Mandar, Boycott Kym, Grimes David A, Goobie Sharan, Leckey Richard, Dion Patrick A, Rouleau Guy A
Abstract excerpt
Our group previously described and mapped to chromosomal region 12p13 a form of dominantly inherited hereditary spastic ataxia (HSA) in three large Newfoundland (Canada) families. This report identifies vesicle-associated membrane protein 1 (VAMP1), which encodes a critical protein for synaptic exocytosis, as the responsible gene. In total, 50 affected individuals from these families and three independent...
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