Late‐Onset Tay‐Sachs Disease in an Irish Family. Issue 1 (28th October 2020)

• Record Type: Journal Article
• Authors: Lefter, Stela; O' Mahony, Olivia; Sweeney, Brian; Ryan, Aisling M.
• Is Part Of: Movement disorders clinical practice. Volume 8:Issue 1(2021)
• Page Start: 106
• Page End: 110
• Publication Date: 2020-10-28
• Subjects: Tay‐Sachs disease, β‐hexosaminidase A, belly‐dancer's dyskinesia; Movement Disorders; Movement disorders -- Periodicals; Movement disorders; Periodicals; Periodicals; 616
• DOI: 10.1002/mdc3.13096
• Languages: English
• ISSNs: 2330-1619

Abstract

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. Abstract : View Supplementary Video 1 View Supplementary Video 2 View Supplementary Video 3