Winarni, Tri Indah The fragile X-associated tremor ataxia in Indonesia. Clinical Genetics.
|PDF (The fragile X-associated tremor ataxia in Indonesia)|
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.
|Subjects:||Q Science > QH Natural history > QH426 Genetics|
|Divisions:||Faculty of Medicine > Department of Medicine|
Faculty of Medicine > Department of Medicine
|Deposited By:||INVALID USER|
|Deposited On:||14 Jun 2019 14:34|
|Last Modified:||14 Jun 2019 14:35|
Repository Staff Only: item control page