Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7
| Autor: | Ludger Schöls, Isabelle Migeotte, Claire Sophie Davoine, Mélanie Papin, Pegah Masrori, Bart P.C. van de Warrenburg, Rebecca Schüle, Mathieu Anheim, Marc D'Hooghe, Elisabeth Ollagnon-Roman, Charles Duyckaerts, Claire Ewenczyk, Andrea Martinuzzi, Jonathan Baets, Marie Lorraine Monin, Giulia Coarelli, T Deconinck, Maria Grazia D'Angelo, Sophie Tezenas du Montcel, Alexis Brice, Thomas Klockgether, Delia Kurzwelly, Fanny Mochel, Perrine Charles, Peter De Jonghe, Elisa E.G. Hamer, Matthis Synofzik, B. Fontaine, Maria Teresa Bassi, Christoph Kamm, Danielle Seilhean, Giovanni Stevanin, Thomas Klopstock, Jan De Bleecker, Alexandra Durr, Guillaume Banneau |
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| Přispěvatelé: | Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute (ICM), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Service de Neurochirurgie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hertie-Institute for Clinical Brain Research, Département de Neurologie, CHU Strasbourg, Centre de recherche en Myologie – U974 SU-INSERM, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Munich Cluster for systems neurology [Munich] (SyNergy), Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM)-Ludwig-Maximilians-Universität München (LMU), Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL), École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL), Département de Biostatistique, Santé Publique et Information Médicale [CHU Pitié-Salpêtrière] (BIOSPIM ), Institut Pierre Louis d'Epidémiologie et de Santé Publique (iPLESP), Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neuropathologie [CHU Pitié Salpêtrière], Laboratoire de Neuropathologie Raymond Escourolle, Centre de Recherche en Myologie |
| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
0301 basic medicine
Male physiopathology [Paraplegia] Gastroenterology Cohort Studies genetics [Metalloendopeptidases] 0302 clinical medicine Loss of Function Mutation Spastic genetics [ATPases Associated with Diverse Cellular Activities] genetics [Cerebellar Ataxia] Metalloendopeptidases Sensory loss Middle Aged Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3] Magnetic Resonance Imaging genetics [European Continental Ancestry Group] Phenotype Cohort Female [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC] medicine.symptom physiopathology [Cerebellar Ataxia] Paraplegia Adult medicine.medical_specialty Ataxia Cerebellar Ataxia genetics [White People] SPG7 protein human Polymorphism Single Nucleotide Article White People genetics [Paraplegia] 03 medical and health sciences Young Adult Atrophy Neurologie Internal medicine genetics [Spastic Paraplegia Hereditary] physiopathology [Spastic Paraplegia Hereditary] medicine Humans Spasticity ddc:610 Cerebellar ataxia business.industry Electromyography Spastic Paraplegia Hereditary medicine.disease 030104 developmental biology [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics ATPases Associated with Diverse Cellular Activities Neurology (clinical) Human medicine business 030217 neurology & neurosurgery |
| Zdroj: | Neurology Neurology, 92, e2679-e2690 Neurology, American Academy of Neurology, 2019, 92 (23), pp.e2679-e2690. ⟨10.1212/WNL.0000000000007606⟩ Neurology 92(23), e2679-e2690 (2019). doi:10.1212/WNL.0000000000007606 Neurology, 92, 23, pp. e2679-e2690 Neurology, 92 (23 |
| ISSN: | 0028-3878 1526-632X |
| DOI: | 10.1212/WNL.0000000000007606⟩ |
| Popis: | 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 ± 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 (p < 0.05), deep sensory loss (p < 0.01), muscle wasting (p < 0.01), ophthalmoplegia (p < 0.05), and sphincter dysfunction (p < 0.05) than those with a shorter duration ( SCOPUS: ar.j info:eu-repo/semantics/published |
| Databáze: | OpenAIRE |
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