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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/13:10189411

Výsledek na webu

<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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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

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

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

FH - Neurologie, neurochirurgie, neurovědy

OECD FORD obor

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Projekt

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Návaznosti

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

Rok uplatnění

2013

Kód důvěrnosti údajů

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

Název periodika

Česká a slovenská neurologie a neurochirurgie

ISSN

1210-7859

e-ISSN

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Svazek periodika

76

Číslo periodika v rámci svazku

2

Stát vydavatele periodika

CZ - Česká republika

Počet stran výsledku

4

Strana od-do

221-224

Kód UT WoS článku

000317163400015

EID výsledku v databázi Scopus

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