R. H. has received funding from Novartis, Roche, Seaside Therapeutics, Curemark and Forest Pharmaceuticals for treatment studies in fragile X syndrome or autism. She is also on the Fragile X Advisory Counsel of Novartis as a consultant. There is no conflict of interest to be declared from the other authors.
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia
Article first published online: 6 JUN 2012
© 2012 John Wiley & Sons A/S
Volume 83, Issue 3, pages 263–268, March 2013
How to Cite
The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia, , , , , , , .
- Issue published online: 18 FEB 2013
- Article first published online: 6 JUN 2012
- Accepted manuscript online: 8 MAY 2012 12:42PM EST
- Manuscript Revised: 4 MAY 2012
- Manuscript Received: 27 FEB 2012
- Seaside Therapeutics
- Forest Pharmaceuticals
- quantitative neurological assessment
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.