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Article

Hereditary spastic paraplegia: clinical genetic study of 15 families.

Archives of neurology - 1 Jun 2004

Orlacchio Antonio, Kawarai Toshitaka, Totaro Antonio, Errico Alessia, St George-Hyslop Peter H, Rugarli Elena I, Bernardi Giorgio

Abstract excerpt

BACKGROUND: Autosomal dominant hereditary spastic paraplegia (ADHSP) is mainly caused by mutations in the SPG4 gene, which encodes a new member of the AAA (adenosine triphosphatases associated with diverse cellular activities) protein family (spastin). Accumulation of genotype-phenotype correlation is important for better understanding of SPG4-linked hereditary spastic paraplegia. OBJECTIVES: To perform a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15210521
DOI: 10.1001/archneur.61.6.849

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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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