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

T. I. Winarni, F. E P Mundhofir, A. Ediati, M. Belladona, W. M. Nillesen, H. G. Yntema, B. C J Hamel, S. M H Faradz, Randi J Hagerman

Research output: Contribution to journalArticle

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.

Original languageEnglish (US)
Pages (from-to)263-268
Number of pages6
JournalClinical Genetics
Volume83
Issue number3
DOIs
StatePublished - Mar 2013

Fingerprint

Indonesia
Leukoencephalopathies
Crows
Neurobehavioral Manifestations
Fragile X Tremor Ataxia Syndrome
Neurologic Examination
Pedigree
Southern Blotting
Atrophy
Central Nervous System
Hypertension
Polymerase Chain Reaction

Keywords

  • FMR1
  • FXTAS
  • Indonesia
  • Quantitative neurological assessment

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Winarni, T. I., Mundhofir, F. E. P., Ediati, A., Belladona, M., Nillesen, W. M., Yntema, H. G., ... Hagerman, R. J. (2013). The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. Clinical Genetics, 83(3), 263-268. https://doi.org/10.1111/j.1399-0004.2012.01899.x

The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. / Winarni, T. I.; Mundhofir, F. E P; Ediati, A.; Belladona, M.; Nillesen, W. M.; Yntema, H. G.; Hamel, B. C J; Faradz, S. M H; Hagerman, Randi J.

In: Clinical Genetics, Vol. 83, No. 3, 03.2013, p. 263-268.

Research output: Contribution to journalArticle

Winarni, TI, Mundhofir, FEP, Ediati, A, Belladona, M, Nillesen, WM, Yntema, HG, Hamel, BCJ, Faradz, SMH & Hagerman, RJ 2013, 'The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia', Clinical Genetics, vol. 83, no. 3, pp. 263-268. https://doi.org/10.1111/j.1399-0004.2012.01899.x
Winarni TI, Mundhofir FEP, Ediati A, Belladona M, Nillesen WM, Yntema HG et al. The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. Clinical Genetics. 2013 Mar;83(3):263-268. https://doi.org/10.1111/j.1399-0004.2012.01899.x
Winarni, T. I. ; Mundhofir, F. E P ; Ediati, A. ; Belladona, M. ; Nillesen, W. M. ; Yntema, H. G. ; Hamel, B. C J ; Faradz, S. M H ; Hagerman, Randi J. / The fragile X-associated tremor ataxia syndrome (FXTAS) in Indonesia. In: Clinical Genetics. 2013 ; Vol. 83, No. 3. pp. 263-268.
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