Premium
Late‐Onset Tay‐Sachs Disease in an Irish Family
Author(s) -
Lefter Stela,
O' Mahony Olivia,
Sweeney Brian,
Ryan Aisling M.
Publication year - 2021
Publication title -
movement disorders clinical practice
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.754
H-Index - 18
ISSN - 2330-1619
DOI - 10.1002/mdc3.13096
Subject(s) - dystonia , chorea , tay sachs disease , pediatrics , medicine , dyskinesia , ataxia , population , athetosis , disease , pathology , psychiatry , parkinson's disease , environmental health
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.