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01-10-2020 | Spastic Paraplegia | Short Communication

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

Authors: Matthew Tanti, Diane Cairns, Nasir Mirza, Emma McCann, Carolyn Young

Published in: Neurogenetics | Issue 4/2020

Abstract

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.

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Title: Is NIPA1-associated hereditary spastic paraplegia always ‘pure’? Further evidence of motor neurone disease and epilepsy as rare manifestations
Authors: Matthew Tanti
Diane Cairns
Nasir Mirza
Emma McCann
Carolyn Young
Publication date: 01-10-2020
Publisher: Springer Berlin Heidelberg
Keywords: Spastic Paraplegia
Amyotrophic Lateral Sclerosis
Epilepsy
Published in: Neurogenetics / Issue 4/2020
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-020-00619-0

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

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