Results 41 to 50 of about 42,506 (235)

Novel mutation in exon11 of PRKCG (SCA14): A case report

Frontiers in Genetics, 2023
Introduction:PRKCG mutations have been implicated in the pathogenesis of spinocerebellar ataxia type 14 (SCA14), which is a rare autosomal dominant disease marked by cerebellar degeneration, dysarthria, and nystagmus.
Rong Sun, Xiang Tang, Xueqin Cao, Xinyu Shao, Hong Sun   +4 more
doaj   +1 more source

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

Non spontaneous saccadic movements identification in clinical electrooculography using machine learning [PDF]

, 2015
In this paper we evaluate the use of the machine learning algorithms Support Vector Machines, K-Nearest Neighbors, CART decision trees and Naive Bayes to identify non spontaneous saccades in clinical electrooculography tests.
Becerra-García, Roberto Antonio, Cuevas-Beltrán, Franger, Fernández-Higuera, Abel, García-Bermúdez, Rodolfo, García-Lagos, Francisco, Joya-Caparrós, Gonzalo, Rodríguez-Labrada, Roberto, Velázquez-Mariño, Michel, Velázquez-Rodríguez, Camilo   +8 more
core   +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

Glycine Transporter Blockade Ameliorates Motor Ataxia in a Mouse Model of Spinocerebellar Atrophy

Journal of Pharmacological Sciences, 2009
Ataxic movement, the common major symptom of spinocerebellar atrophy, has been considered to involve impaired glutamatergic excitatory neurotransmission in the cerebellum.
Mitsuo Tanabe, Tomoharu Nakano, Motoko Honda, Hideki Ono   +3 more
doaj   +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

Recurrent postoperative delirium in spinocerebellar ataxia type 2: a case report

Journal of Medical Case Reports, 2019
Background Postoperative delirium is a relatively uncommon condition in middle aged patients, but very widespread in patients with psychiatric and neurological diseases undergoing general anesthesia.
Laura Levantesi, Germano De Cosmo, Giandomenico Logroscino, Michela Saracco   +3 more
doaj   +1 more source

Motor decline in clinically presymptomatic spinocerebellar ataxia type 2 gene carriers. [PDF]

PLoS ONE, 2009
BACKGROUND: Motor deficits are a critical component of the clinical characteristics of patients with spinocerebellar ataxia type 2. However, there is no current information on the preclinical manifestation of those motor deficits in presymptomatic gene ...
Luis Velázquez-Perez, Rosalinda Díaz, Ruth Pérez-González, Nalia Canales, Roberto Rodríguez-Labrada, Jacquelín Medrano, Gilberto Sánchez, Luis Almaguer-Mederos, Cira Torres, Juan Fernandez-Ruiz   +9 more
doaj   +1 more source

Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia [PDF]

, 2006
Background: Although mentioned in most series, “pure” autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds.
Coutinho, P., Cruz, V., Guimarães, J., Silva, S., Tuna, A.   +4 more
core  

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources