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247 Autosomal recessive spinocerebellar ataxia type 10 (SCAR10); a rare diagnosis courtesy 100,000 genome project
  1. Hassan W Zafar,
  2. Nicholas J Gutowski
  1. Royal Devon and Exeter Hospital, Exeter

Abstract

Background Autosomal recessive spinocerebellar ataxias (ARCAs) can involve both central and peripheral nervous systems as well as other organ systems and so frequently pose a diagnostic challenge due to significant overlap in clinical presentation.

Objective We report a case of a Caucasian lady who presented with ataxia, dysarthria and vertical gaze nystagmus. Genetics revealed a mutation in the ANO 10 gene confirming a diagnosis of Spinocerebellar Ataxia Type 10 (SCAR 10).

Methods A 67 year old lady presented 25 years ago with unsteady gait, dysarthria and vertical gaze nystagmus. Her symptoms gradually progressed and she has used a wheelchair for 5 years. Extensive biochemical, imaging and genetic investigations remained unrevealing. MRI showed marked cerebellar atrophy. She had a male sibling with a similar cerebellar syndrome, he died 8 years ago. There is no consanguinity and no other family history. She underwent whole genome sequencing (WGS) as part of the 100,000 Genome project.

Results WGS revealed heterozygous mutations in the ANO 10 gene confirming Spinocerebellar Ataxia Autosomal Recessive 10 (SCAR 10).

Conclusions Gene panel coverage varies with time and rare ARCAs may remain undiagnosed. This case demonstrates the value of the 100,000 Genome project, and by inference WGS, for rare genetic disorders.

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