Spinocerebellar ataxia 15

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Disease Overview

Spinocerebellar ataxia 15 (SCA15) is a neurological condition characterized by slowly progressive gait and limb ataxia, often in combination with eye movement abnormalities and  balance, speech and swallowing difficulties. The onset of symptoms typically occurs between ages 7 and 66 years. The ability to walk independently is often maintained for many years following onset of symptoms. SCA15 is caused by mutations in the ITPR1 gene. It is inherited in an autosomal dominant manner. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. There is no effective treatment known to modify disease progression. Patients may benefit from occupational and physical therapy for gait dysfunction and speech therapy for dysarthria.[5782] 


Synonyms

  • SCA15
  • Spinocerebellar ataxia type 15
  • SCA16 (formerly)
  • Spinocerebellar ataxia 16 (formerly)

For more information, visit GARD.

National Organization for Rare Disorders