Results 191 to 200 of about 27,164 (223)

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

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

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

Differences in Dysphagia Between Spinocerebellar Ataxia Type 3 and Type 6

Dysphagia, 2013
Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders frequently associated with autosomal dominant inheritance. SCA type 3 (SCA3) and SCA type 6 (SCA6) are the most common forms in Japan as well as the rest of the world. SCA3 affects multiple nervous systems while SCA6 affects mainly the cerebellar system.
Chiharu, Isono, Makito, Hirano, Hikaru, Sakamoto, Shuichi, Ueno, Susumu, Kusunoki, Yusaku, Nakamura   +5 more
openaire   +2 more sources

Cognitive deficits in spinocerebellar ataxia type 1, 2, and 3

Journal of Neurology, 2003
Cognitive impairment was studied in distinct types of spinocerebellar ataxia (SCA): eleven SCA1, 14 SCA2, and 11 SCA3 individuals and 8 age- and IQ- matched controls. All were submitted to a neuropsychological test battery that comprised tests for IQ, attention, executive function, verbal and visuospatial memory.
K, Bürk, C, Globas, S, Bösch, T, Klockgether, C, Zühlke, I, Daum, J, Dichgans   +6 more
openaire   +2 more sources

Clinical correlates of olfactory dysfunction in spinocerebellar ataxia type 3

Parkinsonism & Related Disorders, 2011
Olfactory dysfunction is a very common and early sign in neurodegenerative disorders, but few data are already available in hereditary ataxias. Our aim was to evaluate the sense of smell in patients with molecular-proven spinocerebellar ataxia type 3 (SCA3). Forty-one patients with SCA3 and 46 control subjects were studied.
Braga-Neto, P. UNIFESP, Felicio, A. C. UNIFESP, Pedroso, J. L. UNIFESP, Dutra, L. A. UNIFESP, Bertolucci, P. H. F. UNIFESP, Gabbai, Alberto Alain UNIFESP, Barsottini, O. G. P. UNIFESP   +6 more
openaire   +3 more sources

The parkinsonian phenotype of spinocerebellar ataxia type 3 in a Taiwanese family

Parkinsonism & Related Disorders, 2004
We report a parkinsonian phenotype of spinocerebellar ataxia type 3 (SCA3) in three female sibs from one Taiwanese family, found in a genetic analysis of 60 patients from 49 families with familial parkinsonism. Initially, all three patients presented with early onset resting tremor, rigidity, bradykinesia, and good response to levodopa.
Chin-Song, Lu, Hsiu-Chen, Chang, Pei-Chi, Kuo, Yu-Lun, Liu, Wen-Shiang, Wu, Yi-Hsin, Weng, Tzu-Chen, Yen, Yah-Huei Wu, Chou   +7 more
openaire   +2 more sources