Pathogenic variants in the nonimprinted in Prader-Willi/Angelman syndrome (NIPA1) gene typically present with pure hereditary spastic paraplegia (HSP) but complex cases are described. We present a patient with childhood idiopathic generalised epilepsy (IGE) who later developed HSP. She rapidly deteriorated 27 years later with clinically definite amyotrophic lateral sclerosis (ALS). Her family history included HSP, IGE and motor neurone disease. Genetic testing identified a pathogenic variant in the NIPA1 gene associated with spastic paraplegia 6 (SPG6). This case provides the first description of NIPA1 in a family with epilepsy, ALS and thus complex HSP.

中文翻译：

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与NIPA1相关的遗传性痉挛性截瘫是否总是“纯净”的？运动神经元疾病和癫痫的进一步证据为罕见表现。

普拉德-威利/安格曼综合征（NIPA1）基因无印记的致病变异通常表现为单纯的遗传性痉挛性截瘫（HSP），但有复杂病例。我们介绍了一名患儿特发性全身性癫痫（IGE）的患者，该患者后来发展为HSP。27年后，她因临床上明确的肌萎缩性侧索硬化症（ALS）迅速恶化。她的家族史包括HSP，IGE和运动神经元疾病。基因测试确定了与痉挛性截瘫6（SPG6）相关的NIPA1基因的致病变异。此病例首次描述了癫痫，ALS和复杂的HSP家族中的NIPA1。