Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28)
复制标题
DOI：
10.1002/ana.20416
复制
发表时间：
2005-04-01
影响因子：
11.2
通讯作者：
Stevanin, G
中科院分区：
文献类型：
--
作者：
Bouslam, N;Benomar, A;Stevanin, G
Pure hereditary spastic paraplegias are characterized by isolated and progressive spasticity in the lower limbs. We mapped the spastic paraplegia 28 (SPG28) locus to chromosome 14q2l.3-q22.3 in a Moroccan family with autosomal recessive hereditary spastic paraplegia. Affected patients experienced development of progressive spastic gait during childhood and required help walking in their early 40s. Nine additional hereditary spastic paraplegia families were not linked to this locus, demonstrating further genetic heterogeneity. No mutations were found in exons of GCH1 and SPG3A, two genes from the candidate region involved in movement disorders.
