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Article

Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.

Acta neurologica Scandinavica - 1 Feb 2009

Loureiro J L, Miller-Fleming L, Thieleke-Matos C, Magalhães P, Cruz V T, Coutinho P, Sequeiros J, Silveira I

Abstract excerpt

OBJECTIVES: The hereditary spastic paraplegias (HSP) are a genetically and clinically heterogeneous group of neurodegenerative disorders, mainly characterized by a progressive spasticity and weakness of the lower limbs. Mutations in the SPG4 and SPG3A genes are responsible for approximately 50% of autosomal dominant HSP. To genetically diagnose the Portuguese families with HSP, mutation analysis was performed for...

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PMID: 18664244
DOI: 10.1111/j.1600-0404.2008.01074.x

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

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