[Fragile X-associated tremor/ataxia syndrome].
Carriers of premutation within the FMR1 gene are typically normal intellectually, although a limited number of them have been reported to have either learning disabilities or mild dysmorphic features. A neurological condition involving intention tremor, ataxia and cognitive decline has recently been identified among older males carrying premutation alleles of the FMR1 gene, including grandfathers of children affected with fragile X syndrome. Characteristic findings from magnetic resonance imaging include cerebral and cerebellar volume loss and altered signal intensities of the middle cerebellar peduncles. This syndrome may represent one of the more common causes of tremor, ataxia and dementia among older males. The diagnosis of FXTAS is straightforward if a family at high genetic risk could be identified. Thus genetic counseling should be offered to such family.
Katedra i Zakład Biologii Ogólnej, Molekularnej i Genetyki, Slaska Akademia Medyczna w Katowicach. mlisik@slam.katowice.pl
Małgorzata
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Lisik
D000328:Adult; D000367:Age Factors; D000368:Aged; D000483:Alleles; D002524:Cerebellar Ataxia / Q000235:genetics*; D003704:Dementia / Q000235:genetics; D051860:Fragile X Messenger Ribonucleoprotein 1; D005600:Fragile X Syndrome / Q000235:genetics*; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009419:Nerve Tissue Proteins / Q000235:genetics*; D016601:RNA-Binding Proteins / Q000235:genetics*; D012307:Risk Factors; D013577:Syndrome; D014202:Tremor / Q000235:genetics*; D018911:Trinucleotide Repeats / Q000235:genetics
D051860:Fragile X Messenger Ribonucleoprotein 1; D009419:Nerve Tissue Proteins; D016601:RNA-Binding Proteins; C497683:FMR1 protein, human