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Genetic and Rare Diseases Information Center (GARD)

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Spinocerebellar ataxia 15


Other Names for this Disease

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

What is spinocerebellar ataxia 15?

What are the symptoms of spinocerebellar ataxia 15?

What is spinocerebellar ataxia 15?

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.[1] 
Last updated: 1/22/2013

What are the symptoms of spinocerebellar ataxia 15?

Spinocerebellar ataxia 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor (which occurs when a person tries to maintain a position against gravity, such as holding the arms outstretched), mild hyperreflexia (exaggerated reflexes), gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain (an inability to stabilize the eyes during small head tremors, which makes it difficult to read, etc.). Mild dysphagia and movement-induced oscillopsia (a bouncing and blurring of vision) have been observed in some patients. Symptoms typically present between the ages of 7 and 66 years. Gait ataxia and tremor are often the first noticeable symptoms. The ability to walk independently may be maintained for many years (or even decades) following onset of symptoms.[1]
Last updated: 1/22/2013

References
  1. Storey E. Spinocerebellar Ataxia Type 15. GeneReviews. April 2011; http://www.ncbi.nlm.nih.gov/books/NBK1362/. Accessed 1/22/2013.


Other Names for this Disease
  • SCA15
  • SCA16 (formerly)
  • Spinocerebellar ataxia 16 (formerly)
  • Spinocerebellar ataxia type 15
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.