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Fragile X gene premutation in multiple system atrophy |
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| Authors: | Garland E M Vnencak-Jones C L Biaggioni I Davis T L Montine T J Robertson D |
| Affiliation: | Department of Medicine, Vanderbilt University, Nashville, Tennessee 37232-2195, USA. |
| Abstract: | 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. |
| Keywords: | Multiple system atrophy Genetics Fragile X syndrome Ataxia Tremor Trinucleotide repeat expansion Orthostatic hypotension Norepinephrine |
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