Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre‐mutation: FXTAS and beyond

• DOI: 10.1111/j.1399-0004.2005.00425.x
• Publication Date: 2005-03-31T12:27:28Z
• Authors: DZ Loesch; A Churchyard; P Brotchie; M Marot; F Tassone
• Keywords: FMR1; Fragile X Syndrome; Cerebellar ataxia

A neurodegenerative disorder, fragile X‐associated tremor/ataxia syndrome (FXTAS), occurs in some older men carrying a small CGG repeat expansion (pre‐mutation) the FMR1 gene. We surveyed sample of pre‐mutation males to estimate prevalence and spectrum neurological involvement. Twelve aged 50–82 years 11 age‐matched normal controls ascertained an unbiased manner were included assessment that also used standard scales for tremor (Clinical Rating Scale Tremor), ataxia (International Cooperative Ataxia Scale, ICARS) parkinsonian signs (Unified Parkinson's Disease Scale). Axial FLAIR images brain, neuropsychological molecular tests conducted carriers. The disorder meeting all criteria diagnosis ‘definite’ ‘possible’ FXTAS occurred five 12 carriers (41.7%), this was significantly higher compared with (0%). (ICARS) score sum three scores than controls, mRNA elevated but one carrier, did not correlate degree In conclusion, findings provide further evidence allele is significant cause late‐onset neurodegeneration, presenting broad clinical manifestations.