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Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers.

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第一作者： Anna,Nigri

第一单位： Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.

作者： Anna,Nigri ^[1] ; Lidia,Sarro ^[2] ; Alessia,Mongelli ^[3] ; Anna,Castaldo ^[3] ; Luca,Porcu ^[4] ; Chiara,Pinardi ^[1] ; Marina,Grisoli ^[1] ; Stefania,Ferraro ^[1] ; Laura,Canafoglia ^[5] ; Elisa,Visani ^[5] ; Maria Grazia,Bruzzone ^[1] ; Lorenzo,Nanetti ^[3] ; Franco,Taroni ^[3] ; Caterina,Mariotti ^[6]

作者单位： Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. ^[1] Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy.;Neurology Unit, Martini Hospital, Turin, Italy. ^[2] Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy. ^[3] Methodology for Clinical Research Laboratory, Oncology Department, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Milan, Italy. ^[4] Neurophysiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. ^[5] Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, via Celoria 11, 20133, Milan, Italy. caterina.mariotti@istituto-besta.it. ^[6]

关键词 Hereditary ataxias Preclinical Presymptomatic phase SCA1 mutation carrier Structural MRI Symbol Digit Modality Test

医学主题词成年人(Adult);疾病恶化(Disease Progression);人类(Humans);纵向研究(Longitudinal Studies);磁共振成像(Magnetic Resonance Imaging);前瞻性研究(Prospective Studies);脊髓小脑共济失调(Spinocerebellar Ataxias)

DOI 10.1007/s12311-021-01285-0

PMID 34106418

发布时间 2022-04-06

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