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

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.

SUBMITTER: Lefter S 

PROVIDER: S-EPMC7780940 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature