Results 1 to 10 of about 83,312 (148)

Aberrant Cerebellar Circuitry in the Spinocerebellar Ataxias [PDF]

Frontiers in Neuroscience, 2020
The spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative diseases that share convergent disease features. A common symptom of these diseases is development of ataxia, involving impaired balance and motor coordination, usually ...
Katherine J. Robinson, Maxinne Watchon, Angela S. Laird   +2 more
doaj   +3 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
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

Current and emerging treatment modalities for spinocerebellar ataxias. [PDF]

Expert Rev Neurother, 2022
Introduction Spinocerebellar ataxias (SCA) are a group of rare neurodegenerative diseases that dramatically affect the lives of affected individuals and their families.
Ghanekar SD, Kuo SH, Staffetti JS, Zesiewicz TA.   +3 more
europepmc   +2 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

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

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

Genetics, Mechanisms, and Therapeutic Progress in Polyglutamine Spinocerebellar Ataxias

Neurotherapeutics, 2019
Autosomal dominant cerebellar ataxias (ADCAs) are a group of neurodegenerative disorders characterized by degeneration of the cerebellum and its connections.
Ronald A M Buijsen, Lodewijk J A Toonen, Willeke M C Van Roon-Mom   +2 more
exaly   +2 more sources

Functionality and disease severity in spinocerebellar ataxias [PDF]

Arquivos de Neuro-Psiquiatria, 2022
Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases characterized by deterioration of balance and functionality that tends to follow disease progression.
Geanison Castro da CRUZ, Marise Bueno ZONTA, Renato Puppi MUNHOZ, Neliana Maria de MELLO, Alex Tiburtino MEIRA, Maria Cristina de Alencar NUNES, Naiara Talita Guimarães ARANHA, Carlos Henrique Ferreira CAMARGO, Francisco Diego Negrão LOPES NETO, Hélio Afonso Ghizoni TEIVE   +9 more
doaj   +2 more sources