Results 141 to 150 of about 26,249 (178)

Characterization of the rat spinocerebellar ataxia type 3 gene

neurogenetics, 1997
Machado-Joseph disease (MJD) belongs to a group of clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive cerebellar ataxia. The disease-causing mutation has recently been identified as an unstable and expanded (CAG)n trinucleotide repeat in a novel gene of unknown function. In Caucasians, repeat expansions in
I, Schmitt, T, Brattig, M, Gossen, O, Riess   +3 more
openaire   +2 more sources

Executive dysfunction in patients with spinocerebellar ataxia type 3

Journal of Neurology, 2018
The aim of this study was to assess the cognitive functions of patients with spinocerebellar ataxia type 3(SCA3). We examined 15 patients with genetically confirmed SCA3 and 15 healthy control subjects matched for age, years of education, and intellectual ability.
Itaru, Tamura, Asako, Takei, Shinsuke, Hamada, Hiroyuki, Soma, Michio, Nonaka, Sanae, Homma, Fumio, Moriwaka   +6 more
openaire   +2 more sources

Progressive cognitive dysfunction in spinocerebellar ataxia type 3

Movement Disorders, 2013
ABSTRACTBackgroundAlthough it is well established that there is cognitive dysfunction in spinocerebellar ataxia type 3 (SCA3), it is unknown whether cognition deteriorates with disease progression. We therefore prospectively studied cognitive function in patients with SCA3.MethodsEleven patients with SCA3 were assessed using an extensive ...
Röske, Sandra, Filla, Ina, Heim, Stefan, Amunts, Katrin, Helmstaedter, Christoph, Wüllner, Ullrich, Wagner, Michael, Klockgether, Thomas, Minnerop, Martina   +8 more
openaire   +3 more sources

Spinocerebellar ataxia type 3 presenting with writer's cramp without ataxia

International Journal of Neuroscience, 2017
Spinocerebellar ataxia type 3 is the most common cause of autosomal dominant inherited ataxia worldwide.Clinically, it exhibits wide phenotypic variability. Presentation as isolated dystonia is exceptional.Here, the case of a woman with writers cramp without ataxia is presented as a paucisymptomatic manifestation of this disease.This association has ...
A, Méndez-Guerrero, D, Uriarte-Pérez de Urabayen, S, Llamas-Velasco   +2 more
openaire   +2 more sources

Therapeutic prospects for spinocerebellar ataxia type 2 and 3

Drugs of the Future, 2009
Spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3) are autosomal-dominant neurodegenerative disorders. SCA2 primarily affects cerebellar Purkinje neurons. SCA3 primarily affects dentate and pontine nuclei and substantia nigra. Both disorders belong to a class of polyglutamine (polyQ) expansion disorders.
Ilya, Bezprozvanny, Thomas, Klockgether
openaire   +2 more sources

HSP27 and cell death in spinocerebellar ataxia type 3

The Cerebellum, 2005
Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant spinocerebellar degeneration characterized by a wide range of clinical manifestations. In this review, we discuss the role(s) that heat shock protein 27 (HSP27) may play in the cell death process of spinocerebellar ataxia type 3.
Mingli, Hsieh, Hui-Fang, Tsai, Wei-Hsiu, Chang   +2 more
openaire   +2 more sources

Comparing speech characteristics in spinocerebellar ataxias type 3 and type 6 with Friedreich ataxia

Journal of Neurology, 2014
Patterns of dysarthria in spinocerebellar ataxias (SCAs) and their discriminative features still remain elusive. Here we aimed to compare dysarthria profiles of patients with (SCA3 and SCA6 vs. Friedreich ataxia (FRDA), focussing on three particularly vulnerable speech parameters (speaking rate, prosodic modulation, and intelligibility) in ataxic ...
Brendel, Bettina, Synofzik, Matthis, Ackermann, Hermann, Lindig, Tobias, Schölderle, Theresa, Schöls, Ludger, Ziegler, Wolfram   +6 more
openaire   +4 more sources

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

American Journal of Medical Genetics, 2000
The frequencies of various genetically defined spinocerebellar ataxias (SCAs) vary in different populations presumably due to founder effects. No data have been published on the Australian population. Although predominantly of Anglo-Celtic extraction, Australia has also received considerable influx from southeastern Europe and more recently eastern and
E, Storey, D, du Sart, J H, Shaw, P, Lorentzos, L, Kelly, R J, McKinley Gardner, S M, Forrest, I, Biros, G A, Nicholson   +8 more
openaire   +2 more sources

Clinical Characteristics of Spinocerebellar Ataxia Type 3 in Uruguay

The Cerebellum
Spinocerebellar ataxias (SCAs) are autosomal dominant genetic disorders characterized by progressive cerebellar degeneration and phenotypic variability. MJD/SCA3, the most prevalent form around the world and in Latin America, is also likely the most common hereditary ataxia in Uruguay.
Nicolás, Sommaruga, Nicolás, Labaure, Andrea, Zamora, Santiago, Giménez, Gonzalo, Pérez-Hornos, Cristina, Vázquez   +5 more
openaire   +2 more sources

Masseter reflex in the study of spinocerebellar ataxia type 2 and type 3

Muscle & Nerve, 2009
AbstractIn this investigation we assess the utility of the masseter reflex for diagnostic purposes in autosomal dominant cerebellar ataxias. We studied the masseter reflex electrophysiologically in spinocerebellar ataxia type 2 (SCA2, 10 patients) and type 3 (SCA3/MJD, 13 patients). In SCA2, the masseter reflex was abnormal in 9 (90%) patients. In SCA3/
Antonio, García, Silvia, Alvarez, Jon, Infante, José, Berciano   +3 more
openaire   +2 more sources