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Neurology. 2000 Sep 12;55(5):702-5.

Intrafamilial variability in hereditary spastic paraplegia associated with an SPG4 gene mutation.

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Molecular Medicine, IRCCS-Bambino Gesù, Rome, Italy.


The authors studied a family with pure autosomal dominant spastic paraplegia (ADHSP) that showed a marked intrafamilial variability in both age at onset and clinical severity, ranging from severe congenital presentation to mild involvement after age 55. They found a novel mutation in the SPG4 gene, which segregates with the disease in six patients. The mutation affects the consensus donor splice site of SPG4 intron 16, resulting in a premature termination codon at amino acid 578. The data confirm the pathologic significance of SPG4 mutations in pure ADHSP and add to the list of known SPG4 allelic variants.

[Indexed for MEDLINE]

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