Article
Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 May 2011
Loesch Danuta Z, Godler David E, Evans Andrew, Bui Quang M, Gehling Freya, Kotschet Katya E, Trost Nicholas, Storey Elsdon, Stimpson Paige, Kinsella Glynda, Francis David, Thorburn David R, Venn Alison, Slater Howard R, Horne Malcolm
Abstract excerpt
PURPOSE: Our previous results showed that both gray zone and lower end premutation range (40-85 repeats) fragile X mental retardation 1 (FMR1) alleles were more common among males with parkinsonism than in the general population. This study aimed to determine whether these alleles have a significant role in the manifestations and pathogenesis of parkinsonian disorders. METHODS: Detailed clinical assessment and...
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