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Pregled bibliografske jedinice broj: 459328

Časopis

Autori: Šarac, Helena; Henigsberg, Neven; Markeljević, Jasenka; Pavliša, Goran; Hof, Patrick R.; Šimić, Goran
Naslov: Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman : clinical, genetics, MRI and 1H-MR spectroscopy correlates
Izvornik: Collegium antropologicum (0350-6134) 35 (2011), S1; 327-332
Vrsta rada: prethodno priopćenje
Ključne riječi: FMR1 gene; fragile X premutation; tremor; cerebellar ataxia; cognitive impairment; genetics; MRI; 1H-MR spectroscopy
Sažetak:
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.
Projekt / tema: 108-1081870-1880, 108-1081870-1942
Izvorni jezik: ENG
Current Contents: DA
Citation Index: DA
Ostale indexne publikacije: Abstracts in Anthropology;MEDLINE;Sociological Abstracts;SSCI;A&HCI, Scopus, INIST-CNRS, SARL, UnCover, CSA, Int. bibl. Soc. Sci., CIRS
Kategorija: Znanstveni
Znanstvena područja:
Kliničke medicinske znanosti
Tiskani medij: da
URL Internet adrese: http://www.collantropol.hr/_doc/Coll.Antropol.35%282011%29Suppl.1_327-332.pdf
http://hrcak.srce.hr/index.php?show=clanak&id_clanak_jezik=96125
Google Scholar: Fragile X-premutation tremor/ataxia syndrome (FXTAS) in a young woman : clinical, genetics, MRI and 1H-MR spectroscopy correlates
Upisao u CROSBI: gsimic@mef.hr (gsimic@mef.hr), 1. Tra. 2010. u 17:32 sati



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