Fragile X-premutation tremor/ataxia syndrome (Fxtas) in a young woman: clinical, genetics, Mri and 1H-Mr spectroscopy correlates [Fragilni x-vezani tremor/ataxia sindrom (FXTAS) u mlade žene: klinička, genetska, MRI i 1H-MR spektroskopska korelacija]

Šarac, Helena and Henigsberg, Neven and Markeljević, Jasenka and Pavliša, Goran and Hof, Patric R. and Šimić, Goran (2011) Fragile X-premutation tremor/ataxia syndrome (Fxtas) in a young woman: clinical, genetics, Mri and 1H-Mr spectroscopy correlates [Fragilni x-vezani tremor/ataxia sindrom (FXTAS) u mlade žene: klinička, genetska, MRI i 1H-MR spektroskopska korelacija]. Collegium Antropologicum, 35 (S. 1). pp. 327-332. ISSN 0350-6134

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Abstract

It is generally thought that fragile X-associated tremor/ataxia syndrome (FXTAS) represents a late-onset neurodegenerative disorder occuring in male carriers of a premutation expansion (55-200 CGG repeats) in the fragile X mental retardation 1 (FMR 1) gene. However, several female patients with FXTAS have also been reported recently. Here, we describe a 23-year old woman with positive family history of mental retardation and autism who presented clinically with action tremor, ataxia, emotional disturbances and cognitive dysfunction. Magnetic resonance imaging (MRI) of the brain showed diffuse cortical atrophy, while 1H-MR spectroscopy (MRS) revealed decreased levels of N-acetylaspartate (NAA) in the cerebellum, basal ganglia, and pons. Genetic testing confirmed heterozygous FMR 1 gene premutation of 100 CGG repeats in the abnormal allele and 29 CGG repeats in the normal allele. We concluded that FXTAS may be an under-recognized disorder, particularly in women.

Abstract in Croatian

Poznato je da X-vezani tremor/ataxia sindrom (FXTAS) predstavlja neurodegenerativnu bolest s kasnim nastupom prvenstveno kod muških mosilaca premutacije (55–200 CGG ponavljanja) na FMR 1 genu (fragile X mentalna retardacija). Ipak postoji nekoliko opisanih slučajeva oboljelih žena sa FXTAS. Opisujemo 23-godišnju djevojku sa pozitivnom obiteljskom anamnezom mentalne retardacije i autizma sa simptomima tremora, ataksije, emocionalne nestabilnosti i kognitivnih disfunkcija. Magnetska rezonancija (MRI) mozga otkrila je difuznu kortikalnu atrofiju, dok je spektroskopija magnetskom rezonancijom (MRS) pokazala sniženu razinu N-acetilaspartata (NAA) u cerebelumu, bazalnim ganglijima i ponsu u odnosu na nalaze zdravih pojedinaca. Genetsko testiranje potvrdilo je heterozigotnu premutaciju FMR 1 gena sa 100 ponavljanja u abnormalnom alelu i 29 CGG ponavljanja u normalnom alelu. Zaključujemo, da bi FXTAS mogla biti nedovoljno prepoznata bolest, posebno u žena.

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