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01-04-2015 | Letter to the Editors

Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene

Authors: Claudia Stendel, Constanze Gallenmüller, Katrin Peters, Friederike Bürger, Gwendolyn Gramer, Saskia Biskup, Thomas Klopstock

Published in: Journal of Neurology | Issue 4/2015

Excerpt

Dear Sirs, …

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Maegawa GH, Stockley T, Tropak M et al (2006) The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics 118:1550–1562. doi:10.1542/peds.2006-0588 CrossRef

Stenson PD, Mort M, Ball EV et al (2009) The human mutation database: 2008 update. Genome Med 22:1–13. doi:10.1186/gm13

Paw BH, Wood LC, Neufeld EF (1991) A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene. Am J Hum Genet 48:1139–1146PubMedCentralPubMed

Shapiro BE, Natowicz MR (2009) Late-onset Tay-Sachs disease presenting as a childhood stutter. J Neurol Neurosurg Psychiatry 80:94–95. doi:10.1136/jnnp.2008.147645 CrossRefPubMed

Paw BH, Kaback MM, Neufeld EF (1989) Molecular basis of adult- onset and chronic GM2 gangliosidosis in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the α-subunit of β-hexosaminidase. Proc Natl Acad Sci USA 86:2413–2417. doi:10.1073/pnas.86.7.2413 PubMedCentralCrossRefPubMed

MacQueen GM, Rosebush PL, Mazurek MF (1998) Neuropsychiatric aspects of the adult variant of Tay-Sachs disease. J Neuropsychiatry Clin Neurosci 10:10–19. doi:10.1176/jnp.10.1.10 CrossRefPubMed

Title: Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene
Authors: Claudia Stendel
Constanze Gallenmüller
Katrin Peters
Friederike Bürger
Gwendolyn Gramer
Saskia Biskup
Thomas Klopstock
Publication date: 01-04-2015
Publisher: Springer Berlin Heidelberg
Published in: Journal of Neurology / Issue 4/2015
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-015-7729-0

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Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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