Cognitive function impacts gait, functional mobility and falls in Fragile X-Associated Tremor/Ataxia Syndrome

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a progressive neurodegenerative disease that affects a significant number of carriers of a ‘premutation’ size (55-200) CGG repeat expansion in the 5’ untranslated region of the fragile X mental retardation 1 (FMR1) gene on the X chromosome [1]. FXTAS patients may present with a combination of clinical symptoms including cerebellar gait ataxia, balance problems, tremor, parkinsonism, peripheral neuropathy and cognitive deficits. FMR1 premutation carrier (PMC) men are more frequently and severely affected with FXTAS than PMC women due to the protective presence of a normal FMR1 allele on the second X chromosome [1–4] and perhaps random X inactivation in women [5–7].

Source: Gait and Posture - September 12, 2018 Category: Orthopaedics Authors: Joan A. O ’Keefe, Erin E. Robertson, Bichun Ouyang, Danielle Carnes, Andrew McAsey, Yuanqing Liu, Maija Swanson, Bryan Bernard, Elizabeth Berry-Kravis, Deborah A. Hall Tags: Full length article Source Type: research