Results 261 to 270 of about 114,557 (289)

Spinocerebellar ataxia

Nature Reviews Disease Primers, 2019
Thomas Klockgether, Caterina Mariotti, Henry L Paulson   +2 more
exaly   +2 more sources

Synaptic Loss in Spinocerebellar Ataxia Type 3 Revealed by SV2A Positron Emission Tomography

Movement Disorders, 2023
Severe reduced synaptic density was observed in spinocerebellar ataxia (SCA) in postmortem neuropathology, but in vivo assessment of synaptic loss remains challenging.
Zhao Chen, Guang Liao, Na Wan, Zhiyou He, Daji Chen, Zhichao Tang, Z. Long, Guangdong Zou, Linliu Peng, Linlin Wan, Chun-rong Wang, H. Peng, Yu-ting Shi, Yongxiang Tang, Jian Li, Yulai Li, Tingting Long, X. Hou, Lang He, R. Qiu, Dengming Chen, Junling Wang, Ji-feng Guo, Lu Shen, Yiyun Huang, T. Ashizawa, T. Klockgether, B. Tang, M. Zhou, Shuo Hu, Hong Jiang   +30 more
semanticscholar   +1 more source

Gait Variability in Spinocerebellar Ataxia Assessed Using Wearable Inertial Sensors

Movement Disorders, 2021
Quantitative assessment of severity of ataxia‐specific gait impairments from wearable technology could provide sensitive performance outcome measures with high face validity to power clinical trials.
Vrutangkumar V. Shah, R. Rodríguez-Labrada, F. Horak, J. Mcnames, Hannah L Casey, Kyra Hansson Floyd, Mahmoud El-Gohary, J. Schmahmann, L. Rosenthal, S. Perlman, L. Velázquez-Pérez, C. Gomez   +11 more
semanticscholar   +1 more source

Prodromal Spinocerebellar Ataxia Type 2 Subjects Have Quantifiable Gait and Postural Sway Deficits

Movement Disorders, 2020
The search for valid preclinical biomarkers of cerebellar dysfunction is a key research goal for the upcoming era of early interventional approaches in spinocerebellar ataxias.
L. Velázquez-Pérez, R. Rodríguez-Labrada, Yasmani González-Garcés, Eduardo Arrufat-Pié, R. Torres-Vega, J. Medrano‐Montero, Beatriz Ramirez-Bautista, Yaimeé Vázquez-Mojena, G. Auburger, F. Horak, U. Ziemann, C. Gomez   +11 more
semanticscholar   +1 more source

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

European Journal of Neurology, 2020
Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive‐affective syndrome (CCAS), named SCA48.
M. Lieto, V. Riso, D. Galatolo, G. De Michele, S. Rossi, M. Barghigiani, S. Cocozza, G. Pontillo, R. Trovato, F. Saccà, E. Salvatore, A. Tessa, A. Filla, F. Santorelli, Giu De Michele, G. Silvestri   +15 more
semanticscholar   +1 more source

Neurorehabilitation therapy in spinocerebellar ataxia type 2: A 24‐week, rater‐blinded, randomized, controlled trial

Movement Disorders, 2018
Background: Neurorehabilitation has become in a widely used approach in spinocerebellar ataxias, but there are scarce powerful clinical studies supporting this notion.
J. C. Rodríguez-Díaz, L. Velázquez-Pérez, Roberto Rodríguez Labrada, R. Aguilera Rodríguez, Dalina Laffita Pérez, Nalia Canales Ochoa, Jacqueline Medrano Montero, Annelié Estupiñán Rodríguez, Marcos Osorio Borjas, Mariela Góngora Marrero, Lorenzo Reynaldo Cejas, Y. González Zaldivar, D. Almaguer Gotay   +12 more
semanticscholar   +1 more source

Natural history of most common spinocerebellar ataxia: a systematic review and meta-analysis

Journal of Neurology, 2020
Alhassane Diallo, H. Jacobi, S. Tezenas du Montcel, T. Klockgether   +3 more
semanticscholar   +1 more source

Spinocerebellar ataxia type 48: last but not least

Neurological Sciences, 2020
Giovanna De Michele, D. Galatolo, M. Barghigiani, Diletta Dello Iacovo, R. Trovato, A. Tessa, E. Salvatore, A. Filla, G. De Michele, F. Santorelli   +9 more
semanticscholar   +1 more source

A wearable motion capture suit and machine learning predict disease progression in Friedreich’s ataxia

Nature Medicine, 2023
Suran Nethisinghe, , Valeria Ricotti
exaly