Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.
Eur J Neurol
; 31(1): e16069, 2024 01.
Article
en En
| MEDLINE
| ID: mdl-37754769
ABSTRACT
BACKGROUND AND PURPOSE:
Tay-Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in ß-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.CONCLUSION:
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.Palabras clave
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Banco de datos:
MEDLINE
Asunto principal:
Enfermedad de Tay-Sachs
/
Trastornos Mentales
Límite:
Humans
Idioma:
En
Año:
2024
Tipo del documento:
Article