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. 2011 Nov;12(4):333-6.
doi: 10.1007/s10048-011-0291-8. Epub 2011 Jul 28.

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

Anas M Alazami  1 , Nouran Adly, Hisham Al Dhalaan, Fowzan S Alkuraya
Affiliations

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

Anas M Alazami et al. Neurogenetics. 2011 Nov.

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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Figures

Fig. 1
Fig. 1
a Pedigree of the family described in this study. Clinical details for patients V:1 and V:2 are provided in the text. Individuals with red asterisks underneath were utilized for linkage analysis. b Genome-wide linkage analysis using the Affymetrix Axiom microarray platform and EasyLinkage v5.08 software revealed a single maximal peak on chromosome 8 with a LOD score of 4.2. Inset: chromosome-specific display showing close-up of linkage region on chromosome 8. c Overlap of the linkage interval in this study (in red) with the one previously published by Al-Yahyaee et al. [5] (in blue) refined the critical interval to a region flanked by the FUT10 and ZMAT4 genes. Physical position of markers is based on the 2006 assembly (hg18). The dashed curly bracket indicates the 20 kb deleted region, along with the approximate breakpoint positions and the genes affected. d Electrophoresis gel image showing results of RT-PCR conducted on two patients (V:1, V:2 from A), two obligate carriers (IV:9, IV:10), one normal control and one negative control containing no template. The GAPDH data confirms presence of cDNA in patient samples
See this image and copyright information in PMC

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