References
Neudorfer O, Pastores GM, Zeng BJ et al (2005) Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients. Genet Med 7:119–123. doi:10.1097/01.GIM.0000154300.84107.75
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
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 48:1139–1146
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
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
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
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Stendel, C., Gallenmüller, C., Peters, K. et al. Paranoid delusion as lead symptom in two siblings with late-onset Tay–Sachs disease and a novel mutation in the HEXA gene. J Neurol 262, 1072–1073 (2015). https://doi.org/10.1007/s00415-015-7729-0
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DOI: https://doi.org/10.1007/s00415-015-7729-0