First finding of familial spinal cerebellar Ataxia11 in China: clinical, imaging and genetic features.

Yan DengJie FuYuQin ZhongMing ZhangXueliang Qi

Published in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2019)

The first SCA11-affected family in China was characterized by gait instability, movement disorders and dysarthria with obvious cerebellar atrophy. The pathogenic allele was a c.3290T>C mutation in the TTBK2 gene.

Keyphrases

genome wide
early onset
copy number
high resolution
spinal cord
dna methylation
mass spectrometry
cerebral palsy
genome wide identification