Results 41 to 50 of about 15,463 (269)

Validity of a wearable accelerometer to quantify gait in spinocerebellar ataxia type 6 [PDF]

, 2016
Biomarkers are required to track disease progression and measure the effectiveness of interventions for people with spinocerebellar ataxia type-6 (SCA6).
Alcock, Lisa, Del Din, Silvia, Galna, Brook, Godfrey, Alan, Gunn, Eleanor, Hickey, Aodhán, Rochester, Lynn   +6 more
core   +2 more sources

Parkinsonism in Spinocerebellar Ataxia [PDF]

BioMed Research International, 2015
Spinocerebellar ataxia (SCA) presents heterogeneous clinical phenotypes, and parkinsonism is reported in diverse SCA subtypes. Both levodopa responsive Parkinson disease (PD) like phenotype and atypical parkinsonism have been described especially in SCA2, SCA3, and SCA17 with geographic differences in prevalence.
Park, Hyeyoung, Kim, Han-Joon, Jeon, Beom S.   +2 more
openaire   +2 more sources

Functional impairment in patients with myotonic dystrophy type 1 can be assessed by an ataxia rating scale (SARA) [PDF]

, 2017
Myotonic dystrophy type 1 (DM1) is not characterised by ataxia per se; however, DM1 and ataxia patients show similar disturbances in movement coordination often experiencing walking and balance difficulties, although caused by different underlying ...
Atalaia, Antonio, DiPaolo, Giovanni, Guglieri, Michela, Jimenez-Moreno, Cecilia, Lochmüller, Hanns, Monckton, Darren G., Nikolenko, Nikoletta   +6 more
core   +2 more sources

Evaluation of Quality of Life After Use the Virtual Reality in Patients with Neurodegenerative Disease

International Archives of Otorhinolaryngology
Introduction Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases.
Jéssica Spricigo Malisky, Bianca Lopes Cavalcante-Leão, Maria Izabel Severiano, Geslaine Janaina Bueno dos Santos, Hélio Augusto Guizoni Teive, Maria Renata José, Cristiano Miranda de Araújo, Bianca Simone Zeigelboim   +7 more
doaj   +1 more source

Spinocerebellar Ataxia Type 27B (SCA27B): A Hereditary Ataxia in Portugal

Acta Médica Portuguesa
Spinocerebellar ataxia type 27B (SCA27B) is a recently discovered hereditary disease caused by (GAA)≥250 repeat expansion in the fibroblast growth factor 14 (FGF14) gene, and multiple studies have recognized it as one of the most common causes of ...
Vítor Mendes Ferreira, Marta Magriço, Bruna Meira, Raquel Barbosa   +3 more
doaj   +1 more source

Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia [PDF]

, 2019
Heterozygous missense variants in the SPTBN2 gene, encoding the non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified in autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disorder ...
Alfieri, Paolo, Bellacchio, Emanuele, Bertini, Enrico, Capuano, Alessandro, Graziola, Federica, Nardella, Marta, Nicita, Francesco, Piccini, Giorgia, Pignata, Claudio, Terrone, Gaetano, Zanni, Ginevra   +10 more
core   +1 more source

Value of MRI Outcomes for Preventive and Early‐Stage Trials in Spinocerebellar Ataxias 1 and 3

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To examine the value of MRI outcomes as endpoints for preventive and early‐stage trials of two polyglutamine spinocerebellar ataxias (SCAs). Methods A cohort of 100 participants (23 SCA1, 63 SCA3, median Scale for the Assessment and Rating of Ataxia (SARA) score = 5, 42% preataxic, and 14 gene‐negative controls) was scanned at 3T up ...
Thiago J. R. Rezende, Emilien Petit, Young Woo Park, Sophie Tezenas du Montcel, James M. Joers, Jonathan M. DuBois, H. Moore Arnold, Michal Povazan, Ipek Özdemir, Guita Banan, Romain Valabregue, Philipp Ehses, Jennifer Faber, Chiadi U. Onyike, Peter B. Barker, Jeremy D. Schmahmann, Eva‐Maria Ratai, Sub H. Subramony, Thomas H. Mareci, Khalaf O. Bushara, Henry Paulson, Thomas Klockgether, Alexandra Durr, Tetsuo Ashizawa, Christophe Lenglet, Gülin Öz, READISCA Investigators   +26 more
wiley   +1 more source

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]

, 2009
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L, Anheim, M, Arning, L, Barbot, C, Benhassine, T, Brice, A, Chabrol, B, Charles, P, Chbicheb, M, Coutinho, P, De Bleecker, Jan, Delaunoy, JP, Drouot, N, Durr, A, Fleury, M, Fritsch, M, Gazulla, J, Goizet, C, Hamri, A, Koenig, M, Koht, J, Le Ber, I, M'Zahem, A, Marelli, C, Monga, B, Mukhtar, M, Murphy, R, Pouget, J, Salih, M, Schols, L, Sequeiros, J, Synofzik, M, Tazir, M, Tranchant, C, Watanabe, M   +34 more
core   +1 more source

Complementarity of Long‐Reads and Optical Mapping in Parkinson's Disease for Structural Variants

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Long‐read sequencing and optical genome mapping technologies have the ability to detect large and complex structural variants. This has led to the discovery of novel pathogenic variants in neurodegenerative movement disorders. Thus, we aimed to systematically compare the SV detection capabilities of OGM and ONT in Parkinson's disease.
André Fienemann, Theresa Lüth, Susen Schaake, Carolin Gabbert, Marius Möller, Hauke Busch, Katja Lohmann, Jonas A. Gustafson, Danny E. Miller, Kensuke Daida, Manabu Funayama, Nobutaka Hattori, Samia Ben Sassi, Faycel Hentati, Matthew J. Farrer, Kristian K. Ullrich, Christine Klein, Joanne Trinh   +17 more
wiley   +1 more source

Evidence and practices of the use of next generation sequencing in patients with undiagnosed autosomal dominant cerebellar ataxias: a review [PDF]

Arquivos de Neuro-Psiquiatria, 2020
Autosomal dominant cerebellar ataxias (ADCA) are heterogeneous diseases with a highly variable phenotype and genotype. They can be divided into episodic ataxia and spinocerebellar ataxia (SCA); the latter is considered the prototype of the ADCA.
Luiz Eduardo NOVIS, Mariana SPITZ, Marcia JARDIM, Salmo RASKIN, Hélio A. G. TEIVE   +4 more
doaj   +1 more source