prikaz prve stranice dokumenta Fragile X-premutation tremor/ataxia syndrome (Fxtas) in a young woman: clinical, genetics, Mri and 1H-Mr spectroscopy correlates
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Scientific paper - Original scientific paper
Fragile X-premutation tremor/ataxia syndrome (Fxtas) in a young woman: clinical, genetics, Mri and 1H-Mr spectroscopy correlates
Collegium Antropologicum, 35 (2011), S. 1; 327-332. urn:nbn:hr:105:321653
Šarac, Helena; Henigsberg, Neven; Markeljević, Jasenka; Pavliša, Goran; Hof, Patric R.; Šimić, Goran

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Šarac, H., Henigsberg, N., Markeljević, J., Pavliša, G., Hof, P. R. & 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. (S. 1), 327-332. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:321653

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, no. S. 1, 2011, pp. 327-332. https://urn.nsk.hr/urn:nbn:hr:105:321653

Šarac, Helena, Neven Henigsberg, Jasenka Markeljević, Goran Pavliša, Patric R. Hof and Goran Šimić. "Fragile X-premutation tremor/ataxia syndrome (Fxtas) in a young woman: clinical, genetics, Mri and 1H-Mr spectroscopy correlates ." Collegium Antropologicum 35, no. S. 1 (2011): 327-332. https://urn.nsk.hr/urn:nbn:hr:105:321653

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(S. 1), pp. 327-332. Available at: https://urn.nsk.hr/urn:nbn:hr:105:321653 (Accessed 15 April 2024)

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 January [cited 2024 April 15];35(S. 1):327-332. Available at: https://urn.nsk.hr/urn:nbn:hr:105:321653

H. Šarac, N. Henigsberg, J. Markeljević, G. Pavliša, P. R. Hof and 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, no. S. 1, pp. 327-332, January 2011. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:321653. [Accessed: 15 April 2024]

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Title (english)Fragile X-premutation tremor/ataxia syndrome (Fxtas) in a young woman: clinical, genetics, Mri and 1H-Mr spectroscopy correlates
Title (croatian)Fragilni x-vezani tremor/ataxia sindrom (FXTAS) u mlade žene: klinička, genetska, MRI i 1H-MR spektroskopska korelacija
AuthorHelena Šarac
AuthorNeven Henigsberg
AuthorJasenka Markeljević
AuthorGoran Pavliša
AuthorPatric R. Hof
AuthorGoran Šimić
Author's institutionUniversity of Zagreb
School of Medicine
Scientific / art field,
discipline and subdiscipline		BIOMEDICINE AND HEALTHCARE
Clinical Medical Sciences
Abstract (english)
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 (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.
Keywords (english)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCollegium Antropologicum
Numberingvol. 35, no. S. 1, pp. 327-332
p-ISSN0350-6134
URN:NBNurn:nbn:hr:105:321653
Publication2011-01
Document URLhttps://hrcak.srce.hr/64101
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 12:05:24