Spotlight on Fragile X-associated tremor/ataxia syndrome

Fragile X-associated tremor/ataxia syndrome is a late-onset triplet repeat disorder that leads to dementia, parkinsonism, and neuropathy. Its cause is a restricted triplet repeat expansion mutation in the FMR1 gene, whereas a larger expansion results in fragile X syndrome A in children. In this review Dr. Florian Thomas of Saint Louis University and Dr. Niranjan Singh of the University of Missouri – Columbia focus on fragile X-associated tremor/ataxia syndrome and its relation to fragile X syndrome A.

Fragile X-associated tremor/ataxia syndrome illustrates the importance of obtaining a comprehensive family history that is not limited to clinical questions of the patient. Fragile X-associated tremor/ataxia syndrome is part of the differential diagnosis in patients with varying combinations of the above symptoms with or without a family history of intellectual disability. Some estimates suggest that as many as 1 in 3000 men older than 50 years of age may develop fragile X-associated tremor/ataxia syndrome; such numbers would signify a great impact on healthcare costs. The pathomechanistic evidence of mitochondrial and RNA dysfunction and of a neurodevelopmental component to fragile X-associated tremor/ataxia syndrome is discussed.

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