Spinocerebellar ataxia type 4 is caused by a GGC expansion in the ZFHX3 gene and is associated with prominent dysautonomia and motor neuron signs.

Martin PaucarDaniel NilssonMartin EngvallJosé Laffita-MesaCilla SöderhällMikael SkorpilChrister HalldinPatrik FazioKristina Lagerstedt-RobinsonGöran SoldersMaria AngeriaAndrea VarroneMårten RislingHong JiaoInger NennesmoAnna WedellPer Svenningsson

Published in: Journal of internal medicine (2024)

SCA4 is a neurodegenerative disease caused by a novel GGC expansion in the coding region of ZFHX3, and its spectrum is expanded to include dysautonomia and neuromuscular manifestations.

Keyphrases

genome wide
copy number
early onset
dna methylation