The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia.
Clin Genet
; 83(3): 263-8, 2013 Mar.
Article
in En
| MEDLINE
| ID: mdl-22568721
ABSTRACT
Fragile X-associated disorders caused by the premutation of the FMR1 gene, includes the fragile X-associated tremor/ataxia syndrome (FXTAS). FXTAS affects more than 40% of premutation males over the age of 50 and 75% over the age of 80. FMR1 molecular analysis was done using PCR and confirmed by Southern Blot. Three premutation males were diagnosed FXTAS using quantification based on the standard neurological examination. Cognitive impairment was assessed using Raven and WAIS-R test. MRI was done to identify the middle cerebellar peduncle (MCP) sign, white matter disease and/or cerebral atrophy. Three cases of FXTAS are identified, of five individuals older than 50 years in one family tree two met criteria for definite FXTAS and the third with sub-clinical symptoms, although cognitive and radiological criteria are met. These cases are the first identified FXTAS cases in rural Indonesia. In addition with lack of routine medical follow-up, complications of FXTAS, such as hypertension may go unrecognized and untreated, which may further exacerbate the central nervous system (CNS) findings of FXTAS.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ataxia
/
Tremor
/
Fragile X Mental Retardation Protein
/
Fragile X Syndrome
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Asia
Language:
En
Journal:
Clin Genet
Year:
2013
Type:
Article
Affiliation country:
Indonesia