Results 181 to 190 of about 27,164 (223)

“Pinball” intrusions in spinocerebellar ataxia type 3

Neurology, 2018
Saccadic intrusions are involuntary saccades that interrupt fixation and are usually conjugate between eyes.1 Although saccadic intrusions may be seen in healthy individuals, they also accompany certain neurologic disorders (usually manifesting higher frequency or amplitude) including cerebellar disease.2 We present a patient with spinocerebellar ...
João, Lemos, Ana, Novo, Cristina, Duque, João, Castelhano, Eric, Eggenberger, Cristina, Januário   +5 more
openaire   +2 more sources

Prediction of Survival With Long‐Term Disease Progression in Most Common Spinocerebellar Ataxia

Movement Disorders, 2019
Background: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. Objective: To quantify the impact of disease progression measured by the Scale for the Assessment and Rating ...
Alhassane Diallo, Heike Jacobi, Arron Cook   +2 more
exaly   +2 more sources

Tremor-spectrum in spinocerebellar ataxia type 3

Journal of Neurology, 2012
Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramidal symptoms. Tremor is a classical but not frequent manifestation of SCA3 and there is a lack of detailed knowledge regarding its origin.
Cecilia, Bonnet, Emmanuelle, Apartis, Mathieu, Anheim, Andre P, Legrand, Jose F, Baizabal-Carvallo, Anne M, Bonnet, Alexandra, Durr, Marie, Vidailhet   +7 more
openaire   +2 more sources

Homozygosity Enhances Severity in Spinocerebellar Ataxia Type 3

Pediatric Neurology, 2008
Spinocerebellar ataxia type 3, or Machado-Joseph disease, is an autosomal dominant neurodegenerative disease characterized by a wide spectrum of clinical findings that include progressive cerebellar ataxia. All affected individuals have an expanded CAG repeat mutation in one allele of the ATXN3 gene.
Daniel R, Carvalho, Alessandra, La Rocque-Ferreira, Isabela M, Rizzo, Erica U, Imamura, Carlos E, Speck-Martins   +4 more
openaire   +2 more sources

Transcranial sonography in spinocerebellar ataxia type 3

2004
Transcranial sonography (TCS) identifies hyperechogenic basal ganglia in extrapyramidal disorders such as Parkinson's disease or dystonia and reveals brain atrophy reflecting the stage of degeneration in Huntington's disease. Aim of the present study was to evaluate the diagnostic potential of TCS in spinocerebellar ataxia type 3 (SCA3), a ...
Th, Postert, J, Eyding, D, Berg, H, Przuntek, G, Becker, M, Finger, L, Schöls   +6 more
openaire   +2 more sources

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

Spinocerebellar Ataxia-Type 3

2012
Spinocerebellar ataxia-type 3 (SCA3) or Machado-Joseph disease (MJD) is a clinically heterogeneous, neurodegenerative disorder characterized by varying degrees of ataxia, ophthalmoplegia, peripheral neuropathy, pyramidal dysfunction, and movement disorder.
Roongroj Bhidayasiri, Daniel Tarsy
openaire   +1 more source

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