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Updated: Nov 22, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Late-Onset Tay-Sachs Disease in an Irish Family
Stela Lefter1, Olivia O' Mahony2, Brian Sweeney2
1Department of Neurology Southmead Hospital, North Bristol NHS Trust Bristol United Kingdom.
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.
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Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation
Translation Produces the Building Blocks of Life
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