biostudies-literatureUnknown92(23)Coarelli G<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> < 0.05Neurologye2679-e2690https://www.ebi.ac.uk/biostudies/studies/S-EPMC6556095biostudies-literatureLoss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>.PMC6556095Migeotte IPapin MAnheim MSchule RMasrori Pvan de Warrenburg BPCD'Hooghe MMochel FHamer EGBanneau GEwenczyk CSynofzik MOllagnon-Roman ECharles PDe Bleecker JKlockgether TKurzwelly DTezenas du Montcel SSeilhean DBrice AFontaine BStevanin GDe Jonghe PBaets JDeconinck TBassi MTDavoine CSCoarelli GMonin MLDuyckaerts CD'Angelo MGSchols LKamm CMartinuzzi AKlopstock TDurr AfalseLoss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with <i>SPG7</i>.<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> < 0.052019-01-01T00:00:00Z2019 Jun2025-04-04T03:27:04.423Z2020-06-07T07:17:32ZS-EPMC65560953106848410.1212/wnl.000000000000760610.1212/WNL.0000000000007606