Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations

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 theNIPA1 gene associated with spastic paraplegia 6 (SPG6). This case provides the first description ofNIPA1 in a family with epilepsy, ALS and thus complex HSP.
Source: Neurogenetics - Category: Genetics & Stem Cells Source Type: research