Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

doi:10.1212/WNL.0000000000007606

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Article

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Neurology - 4 Jun 2019

Coarelli Giulia, Schule Rebecca, van de Warrenburg Bart P C, De Jonghe Peter, Ewenczyk Claire, Martinuzzi Andrea, Synofzik Matthis, Hamer Elisa G, Baets Jonathan, Anheim Mathieu, Schöls Ludger, Deconinck Tine, Masrori Pegah, Fontaine Bertrand, Klockgether Thomas, D'Angelo Maria Grazia, Monin Marie-Lorraine, De Bleecker Jan, Migeotte Isabelle, Charles Perrine, Bassi Maria Teresa, Klopstock Thomas, Mochel Fanny, Ollagnon-Roman Elisabeth, D'Hooghe Marc, Kamm Christoph, Kurzwelly Delia, Papin Melanie, Davoine Claire-Sophie, Banneau Guillaume, Tezenas du Montcel Sophie, Seilhean Danielle, Brice Alexis, Duyckaerts Charles, Stevanin Giovanni, Durr Alexandra

Abstract excerpt

OBJECTIVE: We took advantage of a large multinational recruitment to delineate genotype-phenotype correlations in a large, trans-European multicenter cohort of patients with spastic paraplegia gene 7 (SPG7). METHODS: We analyzed clinical and genetic data from 241 patients with SPG7, integrating neurologic follow-up data. One case was examined neuropathologically. RESULTS: Patients with SPG7 had a mean age of 35.5...

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Identifiers

PMID: 31068484
DOI: 10.1212/WNL.0000000000007606
PMCID: PMC6556095

Genes

SPG7

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