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Hereditary Spastic Paraplegia
2004
Archives of Neurology
Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations in the SPG4 gene, which encodes a new member of the AAA (adenosine triphosphatases associated with diverse cellular activities) protein family (spastin). Accumulation of genotype-phenotype correlation is important for better understanding of SPG4-linked hereditary spastic paraplegia. Objectives: To perform a clinical and genetic study of families with ADHSP and to perform the functional analysis of the
doi:10.1001/archneur.61.6.849
pmid:15210521
fatcat:6wf2tnjaibbwrdszhymgdp37oa