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Spinocerebellar ataxia 29 (SCA29) and Spinocerebellar ataxia 15 (SCA15)

Spinocerebellar ataxia 29 (SCA29) and Spinocerebellar ataxia 15 (SCA15)

OMIM number: 117360 and 606658

Comments closing date: 31/12/2019

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Spinocerebellar ataxia 29 (SCA29) is a neurological condition and a rare subtype of autosomal dominant cerebellar ataxia type 1. SCA29 (omim# 117360) is characterized by very slowly progressive or non-progressive ataxia, speech difficulties, eye movement abnormalities and intellectual disability. SCA29 presents at birth, or shortly after. Infants have delayed walking and frequent falling. There is mild developmental delay, learning difficulties, and language dysfunction. Older affected individuals, present with intention tremor, muscle spams and migraine headaches. The disease course ranges from non-progressive or very slowly progressive loss of control of bodily movements (ataxia) and can result in disabling control of movement. Other manifestations include eye movement abnormalities, speech and language difficulties, a form of ataxia involving over or undershooting during limb movement, and lack of coordination when performing rapid alternating movements. SCA15 (omim#606658) is a neurological condition that is clinically similar to SCA29. The condition is also 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. Diagnosis is based on clinical history, physical examination, molecular genetic testing, and exclusion of other similar diseases. Both SCA29 and SCA15 are caused by mutations in the ITPR1 gene and is inherited in an autosomal dominant manner.

Review date: 3 December 2021