Article
Early-onset neurodegenerative disease of the cerebellum and motor axons.
Pediatric neurology - 1 May 2009
Salman Michael S, Marles Sandra L, Booth Frances A, Del Bigio Marc R
Abstract excerpt
We describe a novel hereditary neurodegenerative disease of infancy affecting an Aboriginal family from northern Manitoba, Canada. The parents are nonconsanguineous, without a family history of neurodegenerative diseases. Four of 10 siblings (three males and one female) presented with neurologic abnormalities including arthrogryposis, seizures, and severe developmental delay shortly after birth. In two children,...
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