About: Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III

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Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
rdfs:seeAlso	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
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 ataxia. Accurate diagnosis may be of prospective significance in terms of therapeutic management. 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 ataxia. Accurate diagnosis may be of prospective significance in terms of therapeutic management. (en)
Title	Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports (en)
skos:prefLabel	Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports Late-onset Tay-Sachs Disease Can Mimic Spinal Muscular Atrophy Type III - Two Case Reports (en)
skos:notation	RIV/00064165:_____/13:10189411!RIV14-MZ0-00064165
http://linked.open...avai/riv/aktivita	I Z
http://linked.open...avai/riv/aktivity	I, Z(MSM0021620806), Z(MSM0021620849)
http://linked.open...iv/cisloPeriodika	2
http://linked.open...vai/riv/dodaniDat	2014
http://linked.open...aciTvurceVysledku	Jahnová, Helena Nevšímalová, Soňa Příhodová, Iva Poupětová, Helena Kalinčík, Tomáš
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Všeobecná fakultní nemocnice v Praze / (nerozlišená součást)
http://linked.open...dnocenehoVysledku	84396
http://linked.open...ai/riv/idVysledku	RIV/00064165:_____/13:10189411
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	spinal muscular atrophy; hexosaminidase A deficiency; Tay-Sachs disease (en)
http://linked.open.../riv/klicoveSlovo	spinal muscular atrophy Tay-Sachs disease hexosaminidase A deficiency
http://linked.open...odStatuVydavatele	CZ - Česká republika
http://linked.open...ontrolniKodProRIV	[4485D4E4E5BA]
http://linked.open...i/riv/nazevZdroje	Česká a slovenská neurologie a neurochirurgie
http://linked.open...in/vavai/riv/obor	FH
http://linked.open...ichTvurcuVysledku	5 (xsd:int)
http://linked.open...cetTvurcuVysledku	5 (xsd:int)
http://linked.open...UplatneniVysledku	2013
http://linked.open...v/svazekPeriodika	76
http://linked.open...iv/tvurceVysledku	Nevšímalová, Soňa Příhodová, Iva Jahnová, Helena Poupětová, Helena Kalinčík, Tomáš
http://linked.open...ain/vavai/riv/wos	000317163400015
http://linked.open...n/vavai/riv/zamer	Molekulární biologie a patologie buňky za normy a u vybraných klinicky závažných patologických procesů Neuropsychiatrické aspekty neurodegenerativních onemocnění
issn	1210-7859
number of pages	4 (xsd:int)

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