Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10189411" target="_blank" >RIV/00216208:11110/13:10189411 - isvavai.cz</a>

Alternative codes found

RIV/00064165:_____/13:10189411

Result on the web

<a href="http://www.csnn.eu/en/czech-slovak-neurology-article/late-onset-tay-sachs-disease-can-mimic-spinal-muscular-atrophy-type-iii-two-case-reports-40081" target="_blank" >http://www.csnn.eu/en/czech-slovak-neurology-article/late-onset-tay-sachs-disease-can-mimic-spinal-muscular-atrophy-type-iii-two-case-reports-40081</a>

DOI - Digital Object Identifier

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Result language

angličtina

Original language name

Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports

Original language description

Late-onset Tay-Sachs disease is a form of GM2 gangliosidosis with the first manifestation in adolescence to young adulthood. We present clinical and paraclinical findings in two sisters (19 and 29 years). Speech impairment and clumsiness as the initial signs were followed by progressive proximal weakness in the lower extremities. Electromyography showed involvement of the lower motor neuron. Molecular genetic testing brought no evidence of deletion within the SMN1 (survival of motor neuron) gene. Magnetic resonance imaging of the brain revealed marked cerebellar atrophy. Marked decrease in beta-hexosaminidase A activity was found in the serum, plasma and leukocytes. DNA analysis of the HEXA gene identified heterozygous mutations: c.805G>A and c.1123delG. It took 12 years to establish the diagnosis in the older sister. We recommend considering late-onset Tay-Sachs disease for the differential diagnosis of patients with clinical signs suggesting spinal muscular atrophy or spinocerebellar

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FH - Neurology, neuro-surgery, nuero-sciences

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2013

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Česká a slovenská neurologie a neurochirurgie

ISSN

1210-7859

e-ISSN

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Volume of the periodical

76

Issue of the periodical within the volume

2

Country of publishing house

CZ - CZECH REPUBLIC

Number of pages

4

Pages from-to

221-224

UT code for WoS article

000317163400015

EID of the result in the Scopus database

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