Department of Neurology, Tallaght University Hospital, Dublin, Ireland.
Department of Neurology, Cork University Hospital, Cork, Ireland.
Eur J Neurol. 2024 Jan;31(1):e16069. doi: 10.1111/ene.16069. Epub 2023 Sep 27.
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.
泰萨二氏病是一种罕见的常染色体隐性溶酶体贮积病，通常致命。β-己糖胺酶的缺乏导致 GM2 神经节苷脂的积累，导致神经元肿胀和变性。典型的发病年龄在婴儿期，表现为发育倒退和早期死亡。晚发型泰萨二氏病（LOTS）极为罕见，尤其是在非阿什肯纳兹犹太人中，其特征为表现更为缓慢，除锥体外系和神经精神症状外，还伴有小脑和前角细胞功能障碍的特征。
本文报道了 4 例无亲缘关系的非阿什肯纳兹犹太人来源的病例，他们均表现出以神经肌肉为主、某些情况下为纯神经肌肉表型的特征，肌电图检查显示运动神经元病的证据。所有患者均无小脑萎缩，据报道小脑萎缩是 LOTS 的普遍特征。
本病例系列为 LOTS 中存在纯神经肌肉表型提供了证据，在进行前角细胞疾病的鉴别诊断时应考虑到这一点。
