Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay–Sachs disease

Published:2019-05-10 Issue:8 Volume:266 Page:1953-1959
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Jahnová Helena^ORCID,Poupětová Helena,Jirečková Jitka,Vlášková Hana,Košťálová Eva,Mazanec Radim,Zumrová Alena,Mečíř Petr,Mušová Zuzana,Magner Martin^ORCID

Funder

Univerzita Karlova v Praze

Ministerstvo Zdravotnictví Ceské Republiky

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-019-09364-3.pdf

Reference22 articles.

1. Gravel RA, Kaback MM, Proia RL, et al (2014) The GM2 Gangliosidoses. In: The online metabolic and molecular bases of inherited diseases

2. Kaback MM, Desnick RJ (2011) Hexosaminidase A deficiency. In: Pagon R, Adam M (eds) GenReviews, pp 1993–2018

3. Chen H, Chan AY, Stone DU, Mandal NA (2014) Beyond the cherry-red spot: Ocular manifestations of sphingolipid-mediated neurodegenerative and inflammatory disorders. Surv. Ophthalmol. 59:64–76

4. Kaback M, Lim-Steele J, Dabholkar D et al (1994) Tay–Sachs disease—carrier screening, prenatal diagnosis and the molecular era: an international perspective, 1970 to 1993. Obstet Gynecol Surv 270:2307–2315. https://doi.org/10.1097/00006254-199405000-00013

5. Kaback MM (2000) Population-based genetic screening for reproductive counseling: the Tay–Sachs disease model. Eur J Pediatr 159:192–195. https://doi.org/10.1007/PL00014401

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