Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15
- 1 July 1999
- journal article
- case report
- Published by Wolters Kluwer Health in Neurology
- Vol. 53 (1) , 50
- https://doi.org/10.1212/wnl.53.1.50
Abstract
Objective: To characterize a new gene locus for familial spastic paraparesis (FSP). Background: FSP is a genetically heterogeneous group of upper motor neuron syndromes. It can be inherited as an autosomal dominant, autosomal recessive, or X-linked disorder. Four loci for autosomal dominant FSP have been genetically mapped, and two genes have been shown responsible for the X-linked type. In addition, two loci for autosomal recessive type have been reported and mapped to chromosomes 8q and 16q. The gene for the 16q locus has been characterized as a mitochondrial protein. Methods: Eight recessive FSP families from America and Europe were used for genetic linkage analysis. The known recessive loci (8q and 16q) and the X-linked loci (PLP and L1CAM genes) were screened through PCR amplification, followed by linkage analysis, single-strand conformational polymorphism, or both. Results: All the families except one revealed lack of linkage to the known loci for recessive and X-linked types of FSP. One of the eight families showed data consistent with linkage to the previously characterized 8q locus. Analysis of all the families for possible linkage to other candidate loci revealed significant positive lod scores for markers in chromosome 15q. The maximum multipoint combined lod score for the non-8q families was Z = 3.14 for markers D15S1007, D15S971, D15S118, and D15S1012, at a distance of 6.41 cM from the marker D15S1007, in between D15S971 and D15S118. Conclusions: Our data suggest a new locus for recessive FSP linked to chromosome 15q, and that this may be the most common one.Keywords
This publication has 21 references indexed in Scilit:
- Novel Locus for Autosomal Dominant Hereditary Spastic Paraplegia, on Chromosome 8qAmerican Journal of Human Genetics, 1999
- A New Locus for Autosomal Recessive Hereditary Spastic Paraplegia Maps to Chromosome 16q24.3American Journal of Human Genetics, 1998
- Novel Nonsense Proteolipid Protein Gene Mutation as a Cause of X-Linked Spastic Paraplegia in Twin MalesBiochemical and Biophysical Research Communications, 1995
- Developmental trends of sleep‐disordered breathing in Prader‐Willi syndrome: The role of obesityAmerican Journal of Medical Genetics, 1995
- Linkage of ‘pure’ autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneityHuman Molecular Genetics, 1994
- X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 geneNature Genetics, 1994
- Report of the, Second International Workshop on Human Chromosome 15 Mapping 1994Cytogenetic and Genome Research, 1994
- Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14qNature Genetics, 1993