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Spinocerebellar Ataxia Type 11.

Authors

Houlden H.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2008 Jul 22 [updated 2013 Mar 7].

Excerpt

CLINICAL CHARACTERISTICS:

Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features, peripheral neuropathy, and dystonia are seen on occasion. Four families have been reported to date: one each from the UK, France, Germany, and Pakistan. In them, age of onset ranged from the early teens to the mid 20s. Life span is normal.

DIAGNOSIS/TESTING:

Diagnosis is based on clinical findings and the presence of a mutation in TTBK2, the only gene in which mutations are known to cause SCA11.

MANAGEMENT:

Treatment of manifestations: Speech and language therapy for dysarthria and swallowing problems; occupational therapy, including home adaptations; physiotherapy and assessment for assistive devices for ambulation; ankle-foot orthotics (AFOs) for those with neuropathy. Prevention of secondary complications: Weight control for ease of ambulation. Surveillance: Annual neurologic evaluation.

GENETIC COUNSELING:

SCA11 is inherited in an autosomal dominant manner. The rate of de novo mutation is not known. Each child of an individual with SCA11 has a 50% chance of inheriting the pathogenic variant. Prenatal diagnosis for at-risk pregnancies is possible if the diagnosis has been confirmed by molecular genetic testing in a parent.

Copyright © 1993-2016, University of Washington, Seattle. All rights reserved.

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