Article
Mosaic dominant TUBB4A mutation in an inbred family with complicated hereditary spastic paraplegia.
Movement disorders : official journal of the Movement Disorder Society - 1 May 2015
Kancheva Dahlia, Chamova Teodora, Guergueltcheva Velina, Mitev Vanio, Azmanov Dimitar N, Kalaydjieva Luba, Tournev Ivailo, Jordanova Albena
Abstract excerpt
BACKGROUND: Mutations in TUBB4A have been associated with a spectrum of neurological conditions, ranging from the severe hypomyelination with atrophy of the basal ganglia and cerebellum syndrome to the clinically milder dystonia type 4. The presence of movement abnormalities was considered the common hallmark of these disorders. METHODS: Clinical, neurological, and neuroimaging examinations, followed by whole...
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