Congenital ataxia due to novel variant in ATP8A2.

Abstract excerpt

Congenital ataxias are a heterogeneous group of disorders characterized by congenital or early-onset ataxia. Here, we describe two siblings with congenital ataxia, who acquired independent gait by age 4 years. After 16 years of follow-up they presented near normal cognition, cerebellar ataxia, mild pyramidal signs, and dystonia. On exome sequencing, a novel homozygous variant (c.1580-18C > G - intron 17) in...

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• Adenosine Triphosphatases
• Cerebellar Ataxia
• Codon, Nonsense
• HEK293 Cells
• Introns