BACKGROUND: Spinocerebellar ataxia type 6 (SCA6) is an inherited ataxia with no established treatment. Gait ataxia is a prominent feature causing substantial disability. Understanding the evolution of the gait disturbance is a key step in developing treatment strategies. METHODS: We studied 9 gait variables in 24 SCA6 (6 presymptomatic; 18 symptomatic) and 24 controls and correlated gait with clinical severity (presymptomatic and symptomatic). RESULTS: Discrete gait characteristics precede symptoms in SCA6 with significantly increased variability of step width and step time, whereas a more global gait deficit was evident in symptomatic individuals. Gait characteristics discriminated between presymptomatic and symptomatic individuals and were selectively associated with disease severity. CONCLUSIONS: This is the largest study to include a detailed characterization of gait in SCA6, including presymptomatic subjects, allowing changes across the disease spectrum to be compared. Selective gait disturbance is already present in SCA6 before clinical symptoms appear and gait characteristics are also sensitive to disease progression. Early gait disturbance likely reflects primary pathology distinct from secondary changes. These findings open the opportunity for early evaluation and sensitive measures of therapeutic efficacy using instrumented gait analysis which may have broader relevance for all degenerative ataxias.
BACKGROUND: Spinocerebellar ataxia type 6 (SCA6) is an inherited ataxia with no established treatment. Gait ataxia is a prominent feature causing substantial disability. Understanding the evolution of the gait disturbance is a key step in developing treatment strategies. METHODS: We studied 9 gait variables in 24 SCA6 (6 presymptomatic; 18 symptomatic) and 24 controls and correlated gait with clinical severity (presymptomatic and symptomatic). RESULTS: Discrete gait characteristics precede symptoms in SCA6 with significantly increased variability of step width and step time, whereas a more global gait deficit was evident in symptomatic individuals. Gait characteristics discriminated between presymptomatic and symptomatic individuals and were selectively associated with disease severity. CONCLUSIONS: This is the largest study to include a detailed characterization of gait in SCA6, including presymptomatic subjects, allowing changes across the disease spectrum to be compared. Selective gait disturbance is already present in SCA6 before clinical symptoms appear and gait characteristics are also sensitive to disease progression. Early gait disturbance likely reflects primary pathology distinct from secondary changes. These findings open the opportunity for early evaluation and sensitive measures of therapeutic efficacy using instrumented gait analysis which may have broader relevance for all degenerative ataxias.
Authors: Ella M R Fonteyn; Tanja Schmitz-Hübsch; Carla C Verstappen; Laslo Baliko; Bastiaan R Bloem; Silvia Boesch; Lisa Bunn; Perrine Charles; Alexandra Dürr; Allesandro Filla; Paola Giunti; Christoph Globas; Thomas Klockgether; Bela Melegh; Massimo Pandolfo; Anna De Rosa; Ludger Schöls; Dagmar Timmann; Marten Munneke; Berry P H Kremer; Bart P C van de Warrenburg Journal: Cerebellum Date: 2010-06 Impact factor: 3.847
Authors: Roman Schniepp; Maximilian Wuehr; Maximilian Neuhaeusser; Maria Kamenova; Konstantin Dimitriadis; Thomas Klopstock; M Strupp; Thomas Brandt; Klaus Jahn Journal: Mov Disord Date: 2011-10-13 Impact factor: 10.338
Authors: W Ilg; M Branscheidt; A Butala; P Celnik; L de Paola; F B Horak; L Schöls; H A G Teive; A P Vogel; D S Zee; D Timmann Journal: Cerebellum Date: 2018-10 Impact factor: 3.847
Authors: Sarah C Milne; Darren R Hocking; Nellie Georgiou-Karistianis; Anna Murphy; Martin B Delatycki; Louise A Corben Journal: Cerebellum Date: 2014-12 Impact factor: 3.847
Authors: Pierre Cabaraux; Sunil K Agrawal; Huaying Cai; Rocco Salvatore Calabro; Carlo Casali; Loic Damm; Sarah Doss; Christophe Habas; Anja K E Horn; Winfried Ilg; Elan D Louis; Hiroshi Mitoma; Vito Monaco; Maria Petracca; Alberto Ranavolo; Ashwini K Rao; Serena Ruggieri; Tommaso Schirinzi; Mariano Serrao; Susanna Summa; Michael Strupp; Olivia Surgent; Matthis Synofzik; Shuai Tao; Hiroo Terasi; Diego Torres-Russotto; Brittany Travers; Jaimie A Roper; Mario Manto Journal: Cerebellum Date: 2022-04-12 Impact factor: 3.847
Authors: Muriel T N Panouillères; Raed A Joundi; Sonia Benitez-Rivero; Binith Cheeran; Christopher R Butler; Andrea H Németh; R Chris Miall; Ned Jenkinson Journal: Sci Rep Date: 2017-05-24 Impact factor: 4.379
Authors: Brigitte K Paap; Sandra Roeske; Alexandra Durr; Ludger Schöls; Tetsuo Ashizawa; Sylvia Boesch; Lisa M Bunn; Martin B Delatycki; Paola Giunti; Stéphane Lehéricy; Caterina Mariotti; Jörg Melegh; Massimo Pandolfo; Chantal M E Tallaksen; Dagmar Timmann; Shoji Tsuji; Jörg Bela Schulz; Bart P van de Warrenburg; Thomas Klockgether Journal: Mov Disord Clin Pract Date: 2016-02-11