Tom 13, Nr 3 (2017)
Opis przypadku
Opublikowany online: 2017-10-09
Wyświetlenia strony
2251
Wyświetlenia/pobrania artykułu
3272
Zespół drżenia i ataksji związany z łamliwym chromosomem X — opis przypadku
Pol. Przegl. Neurol 2017;13(3):144-149.
Streszczenie
Zespół drżenia i ataksji związany z łamliwym chromosomem X (FXTAS, fragile X-associated tremor/ataxia syndrome) jest rzadkim schorzeniem neurozwyrodnieniowym występującym u osób dorosłych, związanym z mutacją genu FMR1 zlokalizowanego na chromosomie X. Autorzy przedstawili przypadek chorego , u którego na podstawie obrazu klinicznego oraz badań pomocniczych rozpoznano FXTAS.
Słowa kluczowe: zespół drżenia i ataksji związany z łamliwym chromosomem XFXTASchoroba neurodegeneracyjnadrżenieataksja
Referencje
- Hagerman PJ. Current Gaps in Understanding the Molecular Basis of FXTAS. Tremor Other Hyperkinet Mov (N Y). 2012; 2.
- Rzońca S, Gos E. FMRP protein: function and role in pathogenesis of fragile X syndrome. Post Biol Komórki. 2012; 39: 459–476.
- Kalus S, King J, Lui E, et al. Fragile X-associated tremor/ataxia syndrome: An under-recognised cause of tremor and ataxia. J Clin Neurosci. 2016; 23: 162–164.
- Lisik MZ, Janas-Kozik M, et al. Fragile X syndrome – child’s and parent’s problem. Psychiatr Pol. 2011; 45(3): 357–365.
- Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003; 72(4): 869–878.
- Schneider A, Hagerman RJ, Hessl D. Fragile X syndrome -- from genes to cognition. Dev Disabil Res Rev. 2009; 15(4): 333–342.
- Greco CM, Berman RF, Martin RM, et al. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain. 2006; 129(Pt 1): 243–255.
- Gokden M, Al-Hinti JT, Harik SI. Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS). Neuropathology. 2009; 29(3): 280–284.
- Hagerman R, Hagerman P. Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol. 2013; 12(8): 786–798.
- Tassone F, Hagerman R. The Fragile X-Associated Tremor Ataxia Syndrome. Results Probl Cell Differ. 2012; 18: 347–357.
- Greco CM, Soontrapornchai K, Wirojanan J, et al. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. J Urol. 2007; 177(4): 1434–1437.
- Hamlin A, Sukharev D, Campos L, et al. Hypertension in FMR1 premutation males with and without fragile X-associated tremor/ataxia syndrome (FXTAS). Am J Med Genet A. 2012; 158A(6): 1304–1309.
- Loesch DZ, Churchyard A, Brotchie P, et al. Evidence for, and a spectrum of, neurological involvement in carriers of the fragile X pre-mutation: FXTAS and beyond. Clin Genet. 2005; 67(5): 412–417.
- Grigsby J, Leehey MA, Jacquemont S, et al. Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS). Cogn Behav Neurol. 2006; 19(3): 165–171.
- Berry-Kravis E, Hall DA. Treatment and management of FXTAS. Springer, New York 2010: 137–154.
- Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet. 2004; 74(5): 805–816.
- Coffey SM, Cook K, Tartaglia N, et al. Expanded clinical phenotype of women with the FMR1 premutation. Am J Med Genet A. 2008; 146A(8): 1009–1016.
- Brunberg JA, Jacquemont S, Hagerman RJ, et al. Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol. 2002; 23(10): 1757–1766.
- Adams PE, Adams JS, Nguyen DV, et al. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology. 2007; 69(9): 851–859.
- Cohen S, Masyn K, Adams J, et al. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology. 2006; 67(8): 1426–1431.
- Berry-Kravis E, Hall D, Leehey M, et al. Treatment and management of FXTAS. In: Tassone F, , eds. The fragile X-associated tremor ataxia syndrome (FXTAS), New York: Springer. 2011: 137–154.
- Hagerman R, Pak J, Ortigas M, et al. Case Series: Deep Brain Stimulation in Patients with FXTAS. Brain Disord Ther. 2012; 1: 104.
- Ristori G, Romano S, Visconti A, et al. Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial. Neurology. 2010; 74(10): 839–845.
- Ortigas MC, Bourgeois JA, Schneider A, et al. Improving fragile X-associated tremor/ataxia syndrome symptoms with memantine and venlafaxine. J Clin Psychopharmacol. 2010; 30(5): 642–644.
