Literature DB >> 33426165

Late-Onset Tay-Sachs Disease in an Irish Family.

Stela Lefter1, Olivia O' Mahony2, Brian Sweeney2, Aisling M Ryan2.   

Abstract

BACKGROUND: Late-onset Tay-Sachs disease (LOTS) is an autosomal-recessive lysosomal storage disease caused by deficient β-hexosaminidase A activity. LOTS is rare in the Ashkenazi Jews, but even rarer in the non-Jewish population. CASES: We report an Irish family expanding the LOTS phenotype (ataxia, diffuse muscle wasting, dystonia, chorea, belly dancer's dyskinesia, and neuropsychiatric features) associated with the known HEXA variant 1073 + 1G > A and a novel variant c.459 + 24G > C.
CONCLUSIONS: LOTS should be considered in patients with similar symptoms and cerebellar atrophy on brain imaging.
© 2020 International Parkinson and Movement Disorder Society.

Entities:  

Keywords:  Tay‐Sachs disease, β‐hexosaminidase A, belly‐dancer's dyskinesia

Year:  2020        PMID： 33426165      PMCID： PMC7780940          DOI： 10.1002/mdc3.13096

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


  9 in total

1.  Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

Authors:  Orit Neudorfer; Gregory M Pastores; Bai J Zeng; John Gianutsos; Charles M Zaroff; Edwin H Kolodny
Journal:  Genet Med       Date:  2005-02       Impact factor: 8.822

Review 2.  Neuropsychiatric aspects of the adult variant of Tay-Sachs disease.

Authors:  G M MacQueen; P I Rosebush; M F Mazurek
Journal:  J Neuropsychiatry Clin Neurosci       Date:  1998       Impact factor: 2.198

3.  Neuro-ophthalmology of late-onset Tay-Sachs disease (LOTS).

Authors:  J C Rucker; B E Shapiro; Y H Han; A N Kumar; S Garbutt; E L Keller; R J Leigh
Journal:  Neurology       Date:  2004-11-23       Impact factor: 9.910

4.  Ten novel mutations in the HEXA gene in non-Jewish Tay-Sachs patients.

Authors:  S Akli; J C Chomel; J M Lacorte; L Bachner; A Kahn; L Poenaru
Journal:  Hum Mol Genet       Date:  1993-01       Impact factor: 6.150

5.  Brain imaging in late-onset GM2 gangliosidosis.

Authors:  J Y Streifler; M Gornish; H Hadar; N Gadoth
Journal:  Neurology       Date:  1993-10       Impact factor: 9.910

6.  A mutation common in non-Jewish Tay-Sachs disease: frequency and RNA studies.

Authors:  B R Akerman; J Zielenski; B L Triggs-Raine; E M Prence; M R Natowicz; J S Lim-Steele; M M Kaback; E H Mules; G H Thomas; J T Clarke
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

7.  Neuropsychological assessment of patients with late onset GM2 gangliosidosis.

Authors:  C M Zaroff; O Neudorfer; C Morrison; G M Pastores; H Rubin; E H Kolodny
Journal:  Neurology       Date:  2004-06-22       Impact factor: 9.910

8.  Molecular basis of adult-onset and chronic GM2 gangliosidoses in patients of Ashkenazi Jewish origin: substitution of serine for glycine at position 269 of the alpha-subunit of beta-hexosaminidase.

Authors:  B H Paw; M M Kaback; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1989-04       Impact factor: 11.205

Review 9.  Late-onset Tay-Sachs disease presenting as catatonic schizophrenia: diagnostic and treatment issues.

Authors:  P I Rosebush; G M MacQueen; J T Clarke; J W Callahan; P M Strasberg; M F Mazurek
Journal:  J Clin Psychiatry       Date:  1995-08       Impact factor: 4.384
  9 in total

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