Article
H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations?
Movement disorders : official journal of the Movement Disorder Society - 1 May 2015
Erro Roberto, Hersheson Joshua, Ganos Christos, Mencacci Niccoló E, Stamelou Maria, Batla Amit, Thust Stefanie Catherine, Bras Jose M, Guerreiro Rita J, Hardy John, Quinn Niall P, Houlden Henry, Bhatia Kailash P
Abstract excerpt
Recently, mutations in the TUBB4A gene have been found to underlie hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome, a rare neurodegenerative disorder of infancy and childhood. TUBB4A mutations also have been described as causative of DYT4 ("hereditary whispering dysphonia"). However, in DYT4, brain imaging has been reported to be normal and, therefore, H-ABC syndrome and DYT4...
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