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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum
- Source :
- Nature Genetics, Nature Genetics, Nature Publishing Group, 2007, 39 (3), pp.366-72. ⟨10.1038/ng1980⟩, Nature Genetics, Nature Publishing Group, 2007, 39 (3), pp.366-372. ⟨10.1038/ng1980⟩, Nature Genetics, 2007, 39 (3), pp.366-72. ⟨10.1038/ng1980⟩, Nature Genetics, 2007, 39 (3), pp.366-372. ⟨10.1038/ng1980⟩
- Publication Year :
- 2007
- Publisher :
- HAL CCSD, 2007.
-
Abstract
- Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a common and clinically distinct form of familial spastic paraplegia that is linked to the SPG11 locus on chromosome 15 in most affected families. We analyzed 12 ARHSP-TCC families, refined the SPG11 candidate interval and identified ten mutations in a previously unidentified gene expressed ubiquitously in the nervous system but most prominently in the cerebellum, cerebral cortex, hippocampus and pineal gland. The mutations were either nonsense or insertions and deletions leading to a frameshift, suggesting a loss-of-function mechanism. The identification of the function of the gene will provide insight into the mechanisms leading to the degeneration of the corticospinal tract and other brain structures in this frequent form of ARHSP.
- Subjects :
- Genetic Linkage
[SDV]Life Sciences [q-bio]
DNA Mutational Analysis
MESH: Rats, Sprague-Dawley
MESH: Base Sequence
Corpus callosum
Corpus Callosum
Rats, Sprague-Dawley
MESH: Genotype
0302 clinical medicine
MESH: Child
Chlorocebus aethiops
Spastic
MESH: Proteins
MESH: Animals
Age of Onset
MESH: DNA Mutational Analysis
Child
ComputingMilieux_MISCELLANEOUS
Genetics
Cerebral Cortex
0303 health sciences
MESH: Spastic Paraplegia, Hereditary
Pedigree
MESH: COS Cells
COS Cells
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Paraplegia
Adult
MESH: Mutation
Adolescent
Genotype
MESH: Rats
MESH: Pedigree
MESH: Age of Onset
Molecular Sequence Data
Locus (genetics)
Biology
MESH: Corpus Callosum
Frameshift mutation
03 medical and health sciences
Chromosome 15
Genetic linkage
medicine
Animals
Humans
030304 developmental biology
MESH: Adolescent
Chromosomes, Human, Pair 15
MESH: Humans
MESH: Molecular Sequence Data
Base Sequence
Spastic Paraplegia, Hereditary
Proteins
MESH: Adult
medicine.disease
MESH: Cercopithecus aethiops
MESH: Cerebral Cortex
Rats
nervous system diseases
MESH: Lod Score
Corticospinal tract
Mutation
Lod Score
MESH: Linkage (Genetics)
030217 neurology & neurosurgery
MESH: Chromosomes, Human, Pair 15
Subjects
Details
- Language :
- English
- ISSN :
- 10614036 and 15461718
- Database :
- OpenAIRE
- Journal :
- Nature Genetics, Nature Genetics, Nature Publishing Group, 2007, 39 (3), pp.366-72. ⟨10.1038/ng1980⟩, Nature Genetics, Nature Publishing Group, 2007, 39 (3), pp.366-372. ⟨10.1038/ng1980⟩, Nature Genetics, 2007, 39 (3), pp.366-72. ⟨10.1038/ng1980⟩, Nature Genetics, 2007, 39 (3), pp.366-372. ⟨10.1038/ng1980⟩
- Accession number :
- edsair.doi.dedup.....5971eea2644de5b9f7c847d3c403ad5a