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Article

Hereditary spastic paraplegia 3A associated with axonal neuropathy.

Archives of neurology - 1 May 2007

Ivanova Neviana, Claeys Kristl G, Deconinck Tine, Litvinenko Ivan, Jordanova Albena, Auer-Grumbach Michaela, Haberlova Jana, Löfgren Ann, Smeyers Gisele, Nelis Eva, Mercelis Rudy, Plecko Barbara, Priller Josef, Zámecník Josef, Ceulemans Berten, Erichsen Anne Kjersti, Björck Erik, Nicholson Garth, Sereda Michael W, Seeman Pavel, Kremensky Ivo, Mitev Vanio, De Jonghe Peter

Abstract excerpt

OBJECTIVE: To study the frequency and distribution of mutations in SPG3A in a large cohort of patients with hereditary spastic paraplegia. DESIGN: We screened a large cohort of 182 families and isolated cases with pure or complex hereditary spastic paraplegia phenotypes, which were negative for mutations in SPG4. RESULTS: In 12 probands (6.6%), we identified 12 different SPG3A mutations (11 missense and 1...

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PMID: 17502470
DOI: 10.1001/archneur.64.5.706

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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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