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

Authors

  • T I Winarni,

    1. Division of Human Genetic Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia
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  • F E P Mundhofir,

    1. Division of Human Genetic Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia
    2. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • A Ediati,

    1. Faculty of Psychology, Diponegoro University, Semarang, Indonesia
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  • M Belladona,

    1. Department of Neurology, Faculty of Medicine, Diponegoro University, Semarang, Indonesia
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  • W M Nillesen,

    1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • H G Yntema,

    1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • B C J Hamel,

    1. Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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  • S M H Faradz,

    Corresponding author
    1. Division of Human Genetic Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Semarang, Indonesia
    • Corresponding author: Sultana MH Faradz, Division of Human Genetic Center for Biomedical Research, Faculty of Medicine, Diponegoro University, Jl. Dr. Soetomo no: 14, Semarang, Central Java 50231, Indonesia

      Tel.: +62 24 7460017

      fax: +62 24 8454714

      e-mail: sultana@indosat.net.id

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  • R J Hagerman

    1. Medical Investigation of Neurodevelopmental Disorder (MIND) Institute, University of California Davis, Medical Center, Sacramento, CA, USA
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  • 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.

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.

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