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Article

Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2007

Aridon P, Ragonese P, De Fusco M, Lo Coco D, Salemi G, Casari G, Savettieri G

Abstract excerpt

We describe a large kindred with a typical pure form of autosomal dominant hereditary spastic paraplegia (ADHSP). On the basis of maximum LOD score of 1.94 at theta (max)=0 with marker D2S367, we obtained suggestive evidence for linkage of ADHSP to SPG4 locus. Denaturing high-performance liquid chromatography (DHPLC) and direct sequence analysis allowed us to identify a nonsense mutation (1741* C>T) in exon 17 of...

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PMID: 17690846
DOI: 10.1007/s10072-007-0815-z

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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Autosomal dominant hereditary spastic paraplegia: report of a large Italian family with R581X spastin mutation.PMID 17690846Read ↗

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