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Article

Clinical and genetic study of a large Italian family linked to SPG12 locus.

Neurology - 12 Nov 2002

Orlacchio A, Kawarai T, Rogaeva E, Song Y Q, Paterson A D, Bernardi G, St George-Hyslop P H

Abstract excerpt

BACKGROUND: Seven loci for autosomal dominant hereditary spastic paraplegia (ADHSP) have been mapped. To date, two families of SPG12 (chromosome 19q13) have been analyzed; however, there is not enough clinical information on SPG12 to establish locus-phenotype correlations. METHODS: The authors studied 60 individuals from a large Italian family with ADHSP, in which 16 members in four generations were affected....

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Source

Identifiers

PMID: 12427890
DOI: 10.1212/01.wnl.0000031423.43482.19

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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