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Article

Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.

Journal of neurology - 1 Aug 2009

Criscuolo Chiara, Filla Alessandro, Coppola Giovanni, Rinaldi Carlo, Carbone Rosa, Pinto Stefano, Wang Qing, de Leva Maria Fulvia, Salvatore Elena, Banfi Sandro, Brunetti Arturo, Quarantelli Mario, Geschwind Daniel H, Pappatà Sabina, De Michele Giuseppe

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs. Spasticity may occur in isolation (''pure'' HSP) or may be accompanied by other features. Although autosomal recessive HSPs usually have clinically complex phenotypes, mutations within a few genes underlie pure forms. Recently the gene (CYP7B1)...

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Identifiers

PMID: 19363635
DOI: 10.1007/s00415-009-5109-3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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