[Recent advances of study on hereditary spastic paraplegia type 11].
The hereditary spastic paraplegias (HSPs) are a large group of inherited, heterogeneous neurological disorders. All modes of inheritance have been reported. SPG11-associated HSP is supposed to be the most common type of complicated autosomal recessive HSP (ARHSP), especially for patients with thin corpus callosum and intelligence disorder. Here we review the mapping and cloning of the SPG11 gene, the clinical features and the supposed pathogenic mechanisms of SPG11 gene abnormalities.
Du
Juan
J
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
Shen
Lu
L
Tang
Beisha
B
D006801:Humans; D010375:Pedigree; D011506:Proteins / Q000235:genetics; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics*
D011506:Proteins; C520412:SPG11 protein, human