ArticleEuropean journal of neurology2024
Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.
Article in European journal of neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- Late-Onset Tay-Sachs Disease With SMALED-Like Muscle MRI Pattern Despite a Distinct Clinical Phenotype.Journal of the peripheral nervous system : JPNS · 2026Article
- Adult-onset Sandhoff disease presenting with a motor neuron disease phenotype: clinical and mechanistic insights from patient-derived models.Acta neuropathologica communications · 2026Article
- Spectrum of Genetic Mutations Among Iranian Patients with Gangliosidosis.Biochemical genetics · 2026Article
- Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.European journal of neurology · 2024Article
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Authors and funding
13 authors at 6 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
background and purposeTay-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. CASES: 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.
conclusionThis 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.
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