Article
Identification of FXTAS presenting with SCA 12 like phenotype in India.
Parkinsonism & related disorders - 1 Oct 2014
Faruq Mohammed, Srivastava Achal K, Suroliya Varun, Kumar Deepak, Garg Ajay, Shukla Garima, Behari Madhuri
Abstract excerpt
BACKGROUND: Fragile X-associated Tremor/Ataxia syndrome (FXTAS) is a clinically heterogeneous disorder characterized predominantly by tremor, followed by late onset gait ataxia, autonomic dysfunction and/or cognitive impairment. We aimed to screen FMR1-CGG repeats in our cohort of progressive late-onset cerebellar ataxia/tremor cohort to characterize the occurrence of FXTAS in India. METHODS: We have screened...
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