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Article

White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1.

Neuromuscular disorders : NMD - 1 Jan 2009

Biancheri Roberta, Ciccolella Marianna, Rossi Andrea, Tessa Alessandra, Cassandrini Denise, Minetti Carlo, Santorelli Filippo M

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are relatively frequent disorders presenting great genetic heterogeneity. The recent identification of mutations in SPG5/CYP7B1 in six autosomal recessive kindred linked to the SPG5 locus on chromosome 8q prompted us to test the relative frequency of SPG5/CYP7B1 variants in 12 families and in sporadic HSP patients by high-resolution melting screening combined with direct...

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Identifiers

PMID: 19187859
DOI: 10.1016/j.nmd.2008.10.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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