Abstract
The hereditary spastic paraplegias (HSPs; Strümpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1-3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequent of which is that linked to the SPG4 locus on chromosome 2p22 (found in approximately 42%), followed by that linked to the SPG3A locus on chromosome 14q11-q21 (in approximately 9%). Only SPG4 has been identified as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals.
Publication types
-
Research Support, U.S. Gov't, Non-P.H.S.
-
Research Support, U.S. Gov't, P.H.S.
MeSH terms
-
Amino Acid Sequence
-
Base Sequence
-
Chromosomes, Human, Pair 2 / genetics
-
Cloning, Molecular
-
Contig Mapping
-
Female
-
GTP Phosphohydrolases / genetics*
-
GTP-Binding Proteins
-
Humans
-
Lod Score
-
Male
-
Membrane Proteins
-
Models, Molecular
-
Molecular Sequence Data
-
Mutation / genetics*
-
Pedigree
-
Protein Conformation
-
RNA, Messenger / genetics
-
RNA, Messenger / metabolism
-
Reverse Transcriptase Polymerase Chain Reaction
-
Sequence Alignment
-
Sequence Homology, Amino Acid
-
Spastic Paraplegia, Hereditary / genetics*
Substances
-
Membrane Proteins
-
RNA, Messenger
-
ATL1 protein, human
-
GTP Phosphohydrolases
-
GTP-Binding Proteins
Associated data
-
GENBANK/AF131801
-
GENBANK/AY032844
-
OMIM/18260
-
RefSeq/NM_015915
-
RefSeq/NT_010035