Fragile X gene premutation in multiple system atrophy.

Garland EM, Vnencak-Jones CL, Biaggioni I, Davis TL, Montine TJ, Robertson D
J Neurol Sci. 2004 227 (1): 115-8

PMID: 15546601 · DOI:10.1016/j.jns.2004.08.013

Previous reports have suggested that expansion of the CGG repeat located in the fragile X mental retardation 1 (FMR1) gene might be responsible for a significant number of patients with the multiple system atrophy (MSA) phenotype. Analysis of 65 MSA patients found only 4.6% displayed CGG expansions in the suspected range. This is similar to the frequency reported in the normal population, suggesting that this expansion does not play a major role in the MSA phenotype.

MeSH Terms (15)

Aged Aged, 80 and over Female Fragile X Mental Retardation Protein Humans Male Middle Aged Multiple System Atrophy Nerve Tissue Proteins Phenotype Reverse Transcriptase Polymerase Chain Reaction RNA, Messenger RNA-Binding Proteins Sex Factors Trinucleotide Repeat Expansion

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