Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.
LOTS
late-onset Tay−Sachs
neuromuscular
Journal
European journal of neurology
ISSN: 1468-1331
Titre abrégé: Eur J Neurol
Pays: England
ID NLM: 9506311
Informations de publication
Date de publication:
Jan 2024
Jan 2024
Historique:
revised:
23
08
2023
received:
22
04
2023
accepted:
06
09
2023
pubmed:
27
9
2023
medline:
27
9
2023
entrez:
27
9
2023
Statut:
ppublish
Résumé
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. 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. 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.
Sections du résumé
BACKGROUND AND PURPOSE
OBJECTIVE
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.
CASES
METHODS
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.
CONCLUSION
CONCLUSIONS
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.
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e16069Informations de copyright
© 2023 The Authors. European Journal of Neurology published by John Wiley & Sons Ltd on behalf of European Academy of Neurology.
Références
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