A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1-12q14
Open Access
- 1 January 2005
- journal article
- letter
- Published by BMJ in Journal of Medical Genetics
- Vol. 42 (1) , 80-82
- https://doi.org/10.1136/jmg.2004.020172
Abstract
To date nine autosomal recessive HSP loci have been identified and causative mutations found in three genes: SPG7 (paraplegin), SPG20 (spartin), and SPG21 (maspardin). SPG7 encodes paraplegin, a mitochondrial protein, which is a member of the AAA protein superfamily (ATPase associated with diverse cellular activities) and is homologous to a number of yeast mitochondrial metalloproteases.4 SPG7 mutations may result in either pure or complicated HSP phenotypes.4, 5 Muscle biopsy analysis of patients with SPG7 mutations may show histological evidence of mitochondrial dysfunction4, 6 and recently biochemical studies have shown specific defects in mitochondrial respiratory chain function.5, 7Keywords
This publication has 11 references indexed in Scilit:
- A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegiaBrain, 2004
- Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegiaThe Journal of cell biology, 2003
- Maspardin Is Mutated in Mast Syndrome, a Complicated Form of Hereditary Spastic Paraplegia Associated with DementiaAmerican Journal of Human Genetics, 2003
- Disruption of cellular transport: a common cause of neurodegeneration?The Lancet Neurology, 2003
- The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegiaGenomics, 2003
- Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegiasJournal of Medical Genetics, 2003
- Is the Transportation Highway the Right Road for Hereditary Spastic Paraplegia?American Journal of Human Genetics, 2002
- A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10)American Journal of Human Genetics, 2002
- Cloning of ACP33 as a Novel Intracellular Ligand of CD4Journal of Biological Chemistry, 2001
- Clinical Heterogeneity of Autosomal Recessive Spastic ParaplegiasArchives of Neurology, 1999