Results 1 to 10 of about 94,025 (220)

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   +3 more sources

Biomarkers in Spinocerebellar Ataxias. [PDF]

Cerebellum
Biomarkers are defined as measures that indicate biological processes and responses to interventions. Spinocerebellar ataxias (SCAs) are autosomal dominantly inherited, progressive diseases.
Klockgether T, Grobe-Einsler M, Faber J.
europepmc   +5 more sources

Current and emerging treatment modalities for spinocerebellar ataxias [PDF]

Expert Review of Neurotherapeutics, 2022
Introduction Spinocerebellar ataxias (SCA) are a group of rare neurodegenerative diseases that dramatically affect the lives of affected individuals and their families.
Sheng-Han Kuo
exaly   +3 more sources

Cognitive, Emotional, and Other Non-motor Symptoms of Spinocerebellar Ataxias. [PDF]

Curr Neurol Neurosci Rep
Spinocerebellar ataxias (SCAs) are autosomal dominant degenerative syndromes that present with ataxia and brain stem abnormalities. This review describes the cognitive and behavioral symptoms of SCAs in the context of recent knowledge of the role of the ...
Lin CR, Kuo SH, Opal P.
europepmc   +3 more sources

Epidemiology of Spinocerebellar Ataxias in Europe. [PDF]

Cerebellum, 2023
Spinocerebellar 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.
De Mattei F, Ferrandes F, Gallone S, Canosa A, Calvo A, Chiò A, Vasta R.   +6 more
europepmc   +2 more sources

Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias. [PDF]

Am J Hum Genet, 2023
Although the best-known spinocerebellar ataxias (SCAs) are triplet repeat diseases, many SCAs are not caused by repeat expansions. The rarity of individual non-expansion SCAs, however, has made it difficult to discern genotype-phenotype correlations.
Cunha P, Petit E, Coutelier M, Coarelli G, Mariotti C, Faber J, Van Gaalen J, Damasio J, Fleszar Z, Tosi M, Rocca C, De Michele G, Minnerop M, Ewenczyk C, Santorelli FM, Heinzmann A, Bird T, Amprosi M, Indelicato E, Benussi A, Charles P, Stendel C, Romano S, Scarlato M, Le Ber I, Bassi MT, Serrano M, Schmitz-Hübsch T, Doss S, Van Velzen GAJ, Thomas Q, Trabacca A, Ortigoza-Escobar JD, D'Arrigo S, Timmann D, Pantaleoni C, Martinuzzi A, Besse-Pinot E, Marsili L, Cioffi E, Nicita F, Giorgetti A, Moroni I, Romaniello R, Casali C, Ponger P, Casari G, De Bot ST, Ristori G, Blumkin L, Borroni B, Goizet C, Marelli C, Boesch S, Anheim M, Filla A, Houlden H, Bertini E, Klopstock T, Synofzik M, Riant F, Zanni G, Magri S, Di Bella D, Nanetti L, Sequeiros J, Oliveira J, Van de Warrenburg B, Schöls L, Taroni F, Brice A, Durr A.   +71 more
europepmc   +2 more sources

CAG repeat mosaicism is gene specific in spinocerebellar ataxias. [PDF]

Am J Hum Genet
Summary Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar ataxias (SCAs). These repeats are unstable through the germline, and larger repeats lead to earlier onset.
Kacher R, Lejeune FX, David I, Boluda S, Coarelli G, Leclere-Turbant S, Heinzmann A, Marelli C, Charles P, Goizet C, Kabir N, Hilab R, Jornea L, Six J, Dommergues M, Fauret AL, Brice A, Humbert S, Durr A.   +18 more
europepmc   +2 more sources

Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias. [PDF]

Mov Disord Clin Pract
Fatigue is a prevalent and debilitating symptom in neurological disorders, including spinocerebellar ataxias (SCAs). However, the risk factors of fatigue in the SCAs as well as its impact have not been well investigated.
Lai RY, Rummey C, Amlang CJ, Lin CR, Chen TX, Perlman S, Wilmot G, Gomez CM, Schmahmann JD, Paulson H, Ying SH, Onyike CU, Zesiewicz TA, Bushara KO, Geschwind MD, Figueroa KP, Pulst SM, Subramony SH, Burns MR, Opal P, Duquette A, Ashizawa T, Hamedani AG, Davis MY, Srinivasan SR, Moore LR, Shakkottai VG, Rosenthal LS, Kuo SH.   +28 more
europepmc   +2 more sources

Spinocerebellar ataxias (SCAs) caused by common mutations. [PDF]

Neurogenetics, 2021
The term SCA refers to a phenotypically and genetically heterogeneous group of autosomal dominant spinocerebellar ataxias. Phenotypically they present as gait ataxia frequently in combination with dysarthria and oculomotor problems.
Müller U.
europepmc   +2 more sources

Spinocerebellar ataxias in Asia: Prevalence, phenotypes and management

Parkinsonism and Related Disorders, 2021
This paper reviews and summarizes three main aspects of spinocerebellar ataxias (SCA) in the Asian population. First, epidemiological studies were comprehensively reviewed.
Norlinah Mohamed Ibrahim, Shahrul Azmin
exaly   +2 more sources