Results 11 to 20 of about 7,196 (214)

Spinocerebellar ataxias Ataxias espinocerebelares [PDF]

Arquivos de Neuro-Psiquiatria, 2009
Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders,
Hélio A.G. Teive
doaj   +6 more sources

Spinocerebellar ataxias – genotype-phenotype correlations in 104 Brazilian families [PDF]

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Helio A G Teive, Renato P Munhoz, Walter O Arruda   +2 more
exaly   +5 more sources

Cognitive dysfunction in spinocerebellar ataxias [PDF]

Dementia & Neuropsychologia, 2009
Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of complex neurodegenerative diseases, characterized by the presence of progressive cerebellar ataxia, associated or otherwise with ophthalmoplegia, pyramidal signs, extrapyramidal features ...
Helio Afonso Ghizoni Teive, Walter Oleschko Arruda   +1 more
doaj   +5 more sources

Spinocerebellar ataxias: from pathogenesis to recent therapeutic advances [PDF]

Frontiers in Neuroscience
Spinocerebellar ataxia is a phenotypically and genetically heterogeneous group of autosomal dominant-inherited degenerative disorders. The gene mutation spectrum includes dynamic expansions, point mutations, duplications, insertions, and deletions of ...
Jia-Jia Li
exaly   +4 more sources

Molecular hallmarks of neurodegeneration in polyglutamine spinocerebellar ataxias [PDF]

Cell Death and Disease
Polyglutamine spinocerebellar ataxias (PolyQ SCAs) comprise a group of six inherited rare neurodegenerative diseases. They are caused by abnormal mutation of a CAG tract in six otherwise unrelated genes, leading to a complex cascade of molecular events ...
Clévio Nóbrega, Adriana Marcelo, Ana Teresa Rajado, André Conceição, Bernardo Estevam, Carlos A. Matos, David VC Brito, Inês T. Afonso, José Miguel Codêsso, Rebekah Koppenol, Rafael G. Costa, Ricardo Afonso-Reis, Rodrigo Paulino, Tiago Moreira-Gomes   +13 more
doaj   +3 more sources

Cell-based therapeutic strategies for treatment of spinocerebellar ataxias: an update [PDF]

Neural Regeneration Research, 2023
Spinocerebellar ataxias are heritable neurodegenerative diseases caused by a cytosine-adenine-guanine expansion, which encodes a long glutamine tract (polyglutamine) in the respective wild-type protein causing misfolding and protein aggregation. Clinical
Joana Sofia Correia, Sara Duarte-Silva, António José Salgado, Patrícia Maciel   +3 more
doaj   +2 more sources

Lower urinary tract and bowel dysfunction in spinocerebellar ataxias [PDF]

Annals of Clinical and Translational Neurology, 2021
Background Little information is available in spinocerebellar ataxias (SCAs) regarding pelvic organ symptoms. The aim of this study was to characterize the lower urinary tract (LUT) and bowel dysfunction in autosomal dominant spinocerebellar ataxias ...
Joana Afonso Ribeiro, Sara Simeoni, Lorenzo De Min, Tomoyuki Uchiyama, Yu Tung Lo, Nita Solanky, Hector Garcia‐Moreno, Paola Giunti, Jalesh N. Panicker   +8 more
doaj   +3 more sources

Epidemiology of Spinocerebellar Ataxias in Europe. [PDF]

Cerebellum, 2023
AbstractSpinocerebellar ataxias (SCAs) are a heterogenous group of rare neurodegenerative conditions sharing an autosomal dominant pattern of inheritance. More than 40 SCAs have been genetically determined. However, a systematic review of SCA epidemiology in Europe is still missing.
De Mattei F, Ferrandes F, Gallone S, Canosa A, Calvo A, Chiò A, Vasta R.   +6 more
europepmc   +4 more sources

Biomarkers in Spinocerebellar Ataxias. [PDF]

Cerebellum
Abstract Biomarkers are defined as measures that indicate biological processes and responses to interventions. Spinocerebellar ataxias (SCAs) are autosomal dominantly inherited, progressive diseases. As targeted therapies for SCAs are being developed, there is a great need for biomarkers for use in clinical trials. Molecular genetic tests are
Klockgether T, Grobe-Einsler M, Faber J.
europepmc   +4 more sources

Dystonia and ataxia progression in spinocerebellar ataxias [PDF]

Parkinsonism & Related Disorders, 2017
Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known.To study clinical characteristics and ataxia progression in SCAs with and without dystonia.We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for ...
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA ( host institution ), Kuo, Pei-Hsin ( author ), Gan, Shi-Rui ( author ), Wang, Jie ( author ), Lo, Raymond Y. ( author ), Figueroa, Karla P. ( author ), Tomishon, Darya ( author ), Pulst, Stefan M. ( author ), Perlman, Susan ( author ), Wilmot, George ( author ), Gomez, Christopher M. ( author ), Schmahmann, Jeremy D. ( author ), Paulson, Henry ( author ), Shakkottai, Vikram G. ( author ), Ying, Sarah H. ( author ), Zesiewicz, Theresa ( author ), Bushara, Khalaf ( author ), Geschwind, Michael D. ( author ), Xia, Guangbin ( author ), Subramony, S.H. ( UF author ), Ashizawa, Tetsuo ( author ), Kuo, Sheng-Han ( author )   +21 more
openaire   +6 more sources