Frequency of FMR1 premutation in individuals with ataxia and/or tremor and/or parkinsonism
Genet. mol. res. (Online)
; Genet. mol. res. (Online);7(1): 74-84, Jan. 2008. ilus, tab
Article
in En
| LILACS
| ID: lil-553773
Responsible library:
BR26.1
ABSTRACT
A late onset neurological syndrome in carriers of premutation in FMR1 gene was recently described. The condition was named fragile-X-associated tremor/ataxia syndrome (FXTAS) and includes intentional tremor, cerebellar ataxia, parkinsonism, and cognitive deficit. We ascertained the contribution of FMR1 premutation to the phenotypes ataxia, tremor and/or parkinsonism. Sixty-six men over 45 years old presenting these symptoms, isolated or combined, were tested. Also, 74 normal men, randomly chosen in the population, formed the control group. In the patient group, no premutation carrier was found, which is in agreement with other observed frequencies reported elsewhere (0-5% variation). No significant differences were found when comparing gray zone allele frequencies among target and control groups. The FXTAS contribution in patients with phenotypic manifestations of FXTAS was 15/748 (2%). The presence of gray zone alleles is not correlated with FXTAS occurrence.
Key words
Full text:
1
Collection:
01-internacional
Database:
LILACS
Main subject:
Parkinson Disease
/
Ataxia
/
Tremor
/
Fragile X Mental Retardation Protein
/
Gene Frequency
Type of study:
Observational_studies
/
Risk_factors_studies
Limits:
Humans
/
Male
Language:
En
Journal:
Genet. mol. res. (Online)
Journal subject:
BIOLOGIA MOLECULAR
/
GENETICA
Year:
2008
Document type:
Article
Affiliation country:
Brazil
Country of publication:
Brazil