Work

Fragile X–Associated Tremor/Ataxia Syndrome in a Man in His 30s

Year: 2015

Type: article

Abstract: Fragile X–associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s1,2 and affects carriers of premutation expansion (55–200 CGG repeats) of the fragile × mental retardation 1 (FMR1) gene. It is caused by elevated levels of FMR1 messenger RNA, leading to toxicity. Clinical features include progressive cerebellar ataxia and intention tremor. Associated symptoms include autonomic dysfunction, peripheral neuropathy, and cognitive impairment2.

Source: JAMA Neurology

DOI: 10.1001/jamaneurol.2015.1138

Authors: Verónica Martínez-Cerdeño, Mirna Lechpammer, Aisha Lott, Andrea Schneider, Randi Hagerman

Institutions: Shriners Hospitals for Children - Northern California, University of California Davis Medical Center, University of California, Davis

Language: English

Topic: Genetic Neurodegenerative Diseases

Subfield: Cellular and Molecular Neuroscience

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institute of Mental Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development