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Autosomal Dominant Gene Negative Frontotemporal Dementia-Think of SCA17
Diana Angelika Olszewska1, E M Fallon2, G M Pastores3
1Department of Neurology, Dublin Neurological Institute, Mater Misericordiae University Hospital, 57 Eccles Street, Dublin 7, Ireland. diana.angelika.olszewska@gmail.com.
Cerebellum (London, England)
|January 9, 2019
Summary
Spinocerebellar ataxia type 17 (SCA 17) can present as frontal dementia, mimicking frontotemporal dementia. Genetic testing revealed TBP gene repeat expansion in an Irish family, confirming SCA 17.
Area of Science:
- Neurogenetics
- Neurology
- Molecular Biology
Background:
- Spinocerebellar ataxia type 17 (SCA 17) is a rare autosomal dominant disorder.
- CAG/CAA repeat expansion in the TBP gene causes SCA 17, often presenting with ataxia and dementia.
- Frontal dysfunction can mimic frontotemporal dementia (FTD) at disease onset.
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