Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series

被引：1

作者：

Fullam, Sarah ^{[1
]}

Togher, Zara ^{[1
]}

Power, Alan ^{[2
]}

Kennelly, Laura ^{[3
]}

McHugh, John C. ^{[4
]}

O'Dowd, Sean ^{[1
,5
]}

Tubridy, Niall ^{[3
]}

Hardiman, Orla ^{[6
]}

Costigan, Donal ^{[7
]}

Ryan, Aisling ^{[2
]}

Lefter, Stela ^{[6
]}

Connolly, Sean ^{[8
]}

Murphy, Sinead M. ^{[1
,5
]}

机构：

[1] Tallaght Univ Hosp, Dept Neurol, Dublin, Ireland

[2] Cork Univ Hosp, Dept Neurol, Cork, Ireland

[3] St Vincents Univ Hosp, Dept Neurol, Dublin, Ireland

[4] Tallaght Univ Hosp, Dept Clin Neurophysiol, Dublin, Ireland

[5] Trinity Coll Dublin, Acad Unit Neurol, Dublin, Ireland

[6] Beaumont Hosp, Dept Neurol, Dublin, Ireland

[7] Mater Misericordiae Univ Hosp, Dept Clin Neurophysiol, Dublin, Ireland

[8] St Vincents Univ Hosp, Dept Clin Neurophysiol, Dublin, Ireland

来源：

EUROPEAN JOURNAL OF NEUROLOGY | 2024年 / 31卷 / 01期

关键词：

late-onset Tay-Sachs; LOTS; neuromuscular;

D O I：

10.1111/ene.16069

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Background and purpose: Tay-Sachs disease is a rare and often fatal, autosomal recessive, lysosomal storage disease. Deficiency in beta-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.

引用

页数：4

共 5 条

[1] Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease [J].