Cargando…

Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3

BACKGROUND: Given that new therapeutic options for spinocerebellar ataxias are on the horizon, there is a need for markers that reflect disease-related alterations, in particular, in the preataxic stage, in which clinical scales are lacking sensitivity. OBJECTIVE: The objective of this study was to...

Descripción completa

Detalles Bibliográficos
Autores principales:	Faber, Jennifer, Schaprian, Tamara, Berkan, Koyak, Reetz, Kathrin, França, Marcondes Cavalcante, de Rezende, Thiago Junqueira Ribeiro, Hong, Jiang, Liao, Weihua, van de Warrenburg, Bart, van Gaalen, Judith, Durr, Alexandra, Mochel, Fanny, Giunti, Paola, Garcia-Moreno, Hector, Schoels, Ludger, Hengel, Holger, Synofzik, Matthis, Bender, Benjamin, Oz, Gulin, Joers, James, de Vries, Jereon J., Kang, Jun-Suk, Timmann-Braun, Dagmar, Jacobi, Heike, Infante, Jon, Joules, Richard, Romanzetti, Sandro, Diedrichsen, Jorn, Schmid, Matthias, Wolz, Robin, Klockgether, Thomas
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2021
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9521507/ https://www.ncbi.nlm.nih.gov/pubmed/33951232 http://dx.doi.org/10.1002/mds.28610

Ejemplares similares

Cerebellar volumetry in ataxias: Relation to ataxia severity and duration
por: Ferreira, Mónica, et al.
Publicado: (2023)

CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation
por: Faber, Jennifer, et al.
Publicado: (2022)

Stage-dependent biomarker changes in spinocerebellar ataxia type 3
por: Faber, Jennifer, et al.
Publicado: (2023)

Differential Temporal Dynamics of Axial and Appendicular Ataxia in SCA3
por: Maas, Roderick P.P.W.M., et al.
Publicado: (2022)

Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice
por: Wilke, Carlo, et al.
Publicado: (2020)

The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors
por: Hengel, Holger, et al.
Publicado: (2022)

Disease progression of spinocerebellar ataxia types 1, 2, 3 and 6 before and after ataxia onset
por: Jacobi, Heike, et al.
Publicado: (2023)

Validation of a German version of the Cerebellar Cognitive Affective/ Schmahmann Syndrome Scale: preliminary version and study protocol
por: Thieme, Andreas, et al.
Publicado: (2020)

Update cerebellum and cognition
por: Jacobi, Heike, et al.
Publicado: (2021)

Evolution of disability in spinocerebellar ataxias type 1, 2, 3, and 6
por: Jacobi, Heike, et al.
Publicado: (2022)

Cognition in Friedreich's ataxia: a behavioral and multimodal imaging study
por: Dogan, Imis, et al.
Publicado: (2016)

Dual task effect on postural control in patients with degenerative cerebellar disorders
por: Jacobi, Heike, et al.
Publicado: (2015)

Solving unsolved rare neurological diseases—a Solve-RD viewpoint
por: Schüle, Rebecca, et al.
Publicado: (2021)

PolyQ-expanded ataxin-3 protein levels in peripheral blood mononuclear cells correlate with clinical parameters in SCA3: a pilot study
por: Gonsior, Kathrin, et al.
Publicado: (2020)

The CCAS-scale in hereditary ataxias: helpful on the group level, particularly in SCA3, but limited in individual patients
por: Thieme, Andreas, et al.
Publicado: (2022)

Comparison of Live and Remote Video Ratings of the Scale for Assessment and Rating of Ataxia
por: Taheri Amin, Arian, et al.
Publicado: (2023)

Increased brain tissue sodium concentration in Friedreich ataxia: A multimodal MR imaging study
por: Krahe, Janna, et al.
Publicado: (2022)

Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial
por: Feil, Katharina, et al.
Publicado: (2021)

Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames
por: Synofzik, Matthis, et al.
Publicado: (2014)

Affective coding: the emotional dimension of agency
por: Gentsch, Antje, et al.
Publicado: (2014)

Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
por: Traschütz, Andreas, et al.
Publicado: (2021)

Abnormal eyeblink conditioning is an early marker of cerebellar dysfunction in preclinical SCA3 mutation carriers
por: van Gaalen, J., et al.
Publicado: (2018)

Serum neurofilament light chain is increased in hereditary spastic paraplegias
por: Wilke, Carlo, et al.
Publicado: (2018)

Sensorimotor Recalibration Depends on Attribution of Sensory Prediction Errors to Internal Causes
por: Wilke, Carlo, et al.
Publicado: (2013)

The experience of agency: an interplay between prediction and postdiction
por: Synofzik, Matthis, et al.
Publicado: (2013)

Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial
por: Feil, Katharina, et al.
Publicado: (2017)

Proton Magnetic Resonance Spectroscopy of the motor cortex reveals long term GABA change following anodal Transcranial Direct Current Stimulation
por: Patel, Harshal Jayeshkumar, et al.
Publicado: (2019)

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy
por: Smets, Katrien, et al.
Publicado: (2015)

Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6
por: Tezenas du Montcel, Sophie, et al.
Publicado: (2014)

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic
por: Rattay, Tim W., et al.
Publicado: (2018)

Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3
por: Garcia‐Moreno, Hector, et al.
Publicado: (2022)

Guidelines and quality measures for the diagnosis of optic ataxia
por: Borchers, Svenja, et al.
Publicado: (2013)

4-Aminopyridine improves real-life gait performance in SCA27B on a single-subject level: a prospective n-of-1 treatment experience
por: Seemann, Jens, et al.
Publicado: (2023)

Efficacy and Safety of Leriglitazone in Patients With Friedreich Ataxia: A Phase 2 Double-Blind, Randomized Controlled Trial (FRAMES)
por: Pandolfo, Massimo, et al.
Publicado: (2022)

Blood neurofilament light chain levels are associated with disease progression in a transgenic SCA3 mouse model
por: Mengel, David, et al.
Publicado: (2023)

Blood levels of neurofilament light are associated with disease progression in a mouse model of spinocerebellar ataxia type 3
por: Mengel, David, et al.
Publicado: (2023)

A word of hope for ataxia trials in COVID-19 time and beyond
por: Maas, Roderick P. P. W. M., et al.
Publicado: (2020)

The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias
por: Traschütz, Andreas, et al.
Publicado: (2021)

An Automatic Gait Analysis Pipeline for Wearable Sensors: A Pilot Study in Parkinson’s Disease
por: Peraza, Luis R., et al.
Publicado: (2021)

Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA)
por: Reetz, Kathrin, et al.
Publicado: (2019)

Cannot write session to /tmp/vufind_sessions/sess_22js2mrov77rbdoflt04iqhd3s