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Collegium antropologicum, Vol. 35 supplement 1 No. 1, 2011.

Prethodno priopćenje

Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates

Helena Šarac
Neven Henigsberg
Jasenka Markeljević
Goran Pavliša
Patric R. Hof
Goran Šimić

Puni tekst: engleski, pdf (240 KB) str. 327-332 preuzimanja: 249* citiraj
APA 6th Edition
Šarac, H., Henigsberg, N., Markeljević, J., Pavliša, G., Hof, P.R. i Šimić, G. (2011). Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates. Collegium antropologicum, 35 supplement 1 (1), 327-332. Preuzeto s https://hrcak.srce.hr/64101
MLA 8th Edition
Šarac, Helena, et al. "Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates." Collegium antropologicum, vol. 35 supplement 1, br. 1, 2011, str. 327-332. https://hrcak.srce.hr/64101. Citirano 24.04.2019.
Chicago 17th Edition
Šarac, Helena, Neven Henigsberg, Jasenka Markeljević, Goran Pavliša, Patric R. Hof i Goran Šimić. "Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates." Collegium antropologicum 35 supplement 1, br. 1 (2011): 327-332. https://hrcak.srce.hr/64101
Harvard
Šarac, H., et al. (2011). 'Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates', Collegium antropologicum, 35 supplement 1(1), str. 327-332. Preuzeto s: https://hrcak.srce.hr/64101 (Datum pristupa: 24.04.2019.)
Vancouver
Šarac H, Henigsberg N, Markeljević J, Pavliša G, Hof PR, Šimić G. Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates. Collegium antropologicum [Internet]. 2011 [pristupljeno 24.04.2019.];35 supplement 1(1):327-332. Dostupno na: https://hrcak.srce.hr/64101
IEEE
H. Šarac, N. Henigsberg, J. Markeljević, G. Pavliša, P.R. Hof i G. Šimić, "Fragile X-Premutation Tremor/Ataxia Syndrome (Fxtas) in a Young Woman: Clinical, Genetics, Mri and 1H-Mr Spectroscopy Correlates", Collegium antropologicum, vol.35 supplement 1, br. 1, str. 327-332, 2011. [Online]. Dostupno na: https://hrcak.srce.hr/64101. [Citirano: 24.04.2019.]

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.

Ključne riječi
FMR1 gene; fragile X premutation; tremor; cerebellar ataxia; cognitive impairment; genetics; MRI; 1H-MR spectroscopy

Hrčak ID: 64101

URI
https://hrcak.srce.hr/64101

Posjeta: 893 *