{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["92(23)"],"submitter":["Coarelli G"],"pubmed_abstract":["<h4>Objective</h4>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 (<i>SPG7</i>).<h4>Methods</h4>We analyzed clinical and genetic data from 241 patients with <i>SPG7</i>, integrating neurologic follow-up data. One case was examined neuropathologically.<h4>Results</h4>Patients with <i>SPG7</i> had a mean age of 35.5 ± 14.3 years (n = 233) at onset and presented with spasticity (n = 89), ataxia (n = 74), or both (n = 45). At the first visit, patients with a longer disease duration (>20 years, n = 62) showed more cerebellar dysarthria (<i>p</i> < 0.05), deep sensory loss (<i>p</i> < 0.01), muscle wasting (<i>p</i> < 0.01), ophthalmoplegia (<i>p</i> < 0.05"],"journal":["Neurology"],"pagination":["e2679-e2690"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC6556095"],"repository":["biostudies-literature"],"pubmed_title":["Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>."],"pmcid":["PMC6556095"],"pubmed_authors":["Migeotte I","Papin M","Anheim M","Schule R","Masrori P","van de Warrenburg BPC","D'Hooghe M","Mochel F","Hamer EG","Banneau G","Ewenczyk C","Synofzik M","Ollagnon-Roman E","Charles P","De Bleecker J","Klockgether T","Kurzwelly D","Tezenas du Montcel S","Seilhean D","Brice A","Fontaine B","Stevanin G","De Jonghe P","Baets J","Deconinck T","Bassi MT","Davoine CS","Coarelli G","Monin ML","Duyckaerts C","D'Angelo MG","Schols L","Kamm C","Martinuzzi A","Klopstock T","Durr A"],"additional_accession":[]},"is_claimable":false,"name":"Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>.","description":"<h4>Objective</h4>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 (<i>SPG7</i>).<h4>Methods</h4>We analyzed clinical and genetic data from 241 patients with <i>SPG7</i>, integrating neurologic follow-up data. One case was examined neuropathologically.<h4>Results</h4>Patients with <i>SPG7</i> had a mean age of 35.5 ± 14.3 years (n = 233) at onset and presented with spasticity (n = 89), ataxia (n = 74), or both (n = 45). At the first visit, patients with a longer disease duration (>20 years, n = 62) showed more cerebellar dysarthria (<i>p</i> < 0.05), deep sensory loss (<i>p</i> < 0.01), muscle wasting (<i>p</i> < 0.01), ophthalmoplegia (<i>p</i> < 0.05","dates":{"release":"2019-01-01T00:00:00Z","publication":"2019 Jun","modification":"2025-04-04T03:27:04.423Z","creation":"2020-06-07T07:17:32Z"},"accession":"S-EPMC6556095","cross_references":{"pubmed":["31068484"],"doi":["10.1212/wnl.0000000000007606","10.1212/WNL.0000000000007606"]}}