The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia

Winarni, Tri Indah and Mundhofir, Farmaditya EP and Ediati, Annastasia and Belladonna, Maria and Nillesen WM, Nillesen WM and Yntema HG, Yntema HG and Hamel BCJ, Hamel BCJ and Faradz, Sultana M.H. and Hagerman, Randi J. (2013) The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. Clinical Genetics : An International Journal of Genentics, Molecular and Personalized Medicine, 83 (3). pp. 263-268. ISSN 1399-0004

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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.

Item Type:Article
Subjects:R Medicine > R Medicine (General)
Divisions:Faculty of Medicine > Department of Medicine
Faculty of Medicine > Department of Medicine
ID Code:67598
Deposited By:Ms Lutfiatun Heni
Deposited On:07 Dec 2018 10:49
Last Modified:07 Dec 2018 10:49

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