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Open Access 01-11-2011 | SHORT COMMUNICATION

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Authors: Anas M. Alazami, Nouran Adly, Hisham Al Dhalaan, Fowzan S. Alkuraya

Published in: Neurogenetics | Issue 4/2011

Abstract

Hereditary Spastic Paraplegia (HSP) is a clinically and genetically heterogeneous group of neurological disorders that are characterized by progressive spasticity of the lower extremities. We describe an extended consanguineous Saudi family in which HSP is linked to SPG18, a previously reported autosomal recessive locus, and show that it is associated with a nullimorphic deletion of ERLIN2, a component of endoplasmic reticulum associated degradation. This finding adds to the growing diversity of cellular functions that are now known to be involved in the maintenance of the corticospinal tract neurons.

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Title: A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)
Authors: Anas M. Alazami
Nouran Adly
Hisham Al Dhalaan
Fowzan S. Alkuraya
Publication date: 01-11-2011
Publisher: Springer-Verlag
Published in: Neurogenetics / Issue 4/2011
Print ISSN: 1364-6745
Electronic ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-011-0291-8

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A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Abstract

Keynote webinar | Spotlight on medication adherence

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Abstract

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Acknowledgement to Referees 2010/2011