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

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.

SUBMITTER: Alazami AM

PROVIDER: S-EPMC3215864 | biostudies-literature | 2011 Nov

REPOSITORIES: biostudies-literature

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

Alazami Anas M AM Adly Nouran N Al Dhalaan Hisham H Alkuraya Fowzan S FS

Neurogenetics 20110728 4

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 ...[more]

PMID: 21796390

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