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Hereditary Spastic Paraplegia
Arch Neurol 61:849-855,830, Orlacchio,A.,et al, 2004
See this aricle in Pubmed
Article Abstract
A founder SPG4 mutation N386S was identified in the families with ADHSP originating from southern Scotland. Clinical investigation showed intrafamilial and interfamilial phenotypic variations. The genetic study demonstrated evidence of further genetic heterogeneity in ADHSP.
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familial
genetic neurologic disorders
neurologic disease,diagnoses of
paraparesis,familial spastic
paraparesis,spastic
paraplegia
review article
spastin
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