{Reference Type}: Case Reports
{Title}: Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.
{Author}: Fullam S;Togher Z;Power A;Kennelly L;McHugh JC;O'Dowd S;Tubridy N;Hardiman O;Costigan D;Ryan A;Lefter S;Connolly S;Murphy SM;
{Journal}: Eur J Neurol
{Volume}: 31
{Issue}: 1
{Year}: 2024 01 27
{Factor}: 6.288
{DOI}: 10.1111/ene.16069
{Abstract}: Tay-Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in β-hexosaminidase leads to accumulation of GM2 ganglioside resulting in neuronal swelling and degeneration. Typical onset is in infancy with developmental regression and early death. Late-onset Tay-Sachs disease (LOTS) is extremely rare, especially in the non-Ashkenazi Jewish population, and is characterized by a more indolent presentation typically encompassing features of cerebellar and anterior horn cell dysfunction in addition to extrapyramidal and neuropsychiatric symptoms.<BR>A case series of four unrelated patients of non-Ashkenazi Jewish origin with a predominantly, and in some cases pure, neuromuscular phenotype with evidence of a motor neuronopathy on electromyography is presented. Cerebellar atrophy, reported to be a ubiquitous feature in LOTS, was absent in all patients.<BR>This case series provides evidence to support a pure neuromuscular phenotype in LOTS, which should be considered in the differential diagnosis of anterior horn cell disorders.