Results 21 to 30 of about 25,975 (129)

Case Report: Late-Onset Autosomal Recessive Cerebellar Ataxia Associated With SYNE1 Mutation in a Chinese Family

Frontiers in Genetics, 2022
Autosomal recessive cerebellar ataxia type 1 (ARCA-1), also known as autosomal recessive spinocerebellar ataxia type 8 (SCAR8), is caused by spectrin repeat containing nuclear envelope protein 1 (SYNE1) gene mutation.
Nannan Qian, Taohua Wei, Wenming Yang, Wenming Yang, Jiuxiang Wang, Shijie Zhang, Shan Jin, Wei Dong, Wei Dong, Wenjie Hao, Yue Yang, Ru Huang   +11 more
doaj   +1 more source

Vulnerability of Purkinje Cells Generated from Spinocerebellar Ataxia Type 6 Patient-Derived iPSCs

Cell Reports, 2016
Spinocerebellar ataxia type 6 (SCA6) is a dominantly inherited neurodegenerative disease characterized by loss of Purkinje cells in the cerebellum. SCA6 is caused by CAG trinucleotide repeat expansion in CACNA1A, which encodes Cav2.1, α1A subunit of P/Q ...
Yoshihito Ishida, Hideshi Kawakami, Hiroyuki Kitajima, Ayaka Nishiyama, Yoshiki Sasai, Haruhisa Inoue, Keiko Muguruma   +6 more
doaj   +1 more source

Treatment of Spinocerebellar Ataxia with Mesenchymal Stem Cells: A Phase I/IIa Clinical Study

Cell Transplantation, 2017
Ataxia is one of the most devastating symptoms of many neurodegenerative disorders. As of today, there is not any effective treatment to retard its progression. Mesenchymal stem cells (MSCs) have shown promise in treating neurodegenerative diseases.
Yun-An Tsai, Ren-Shyan Liu, Jiing-Feng Lirng, Bang-Hung Yang, Chin-Hao Chang, Yi-Chen Wang, Yu-Shan Wu, Jennifer Hui-Chun Ho, Oscar K. Lee, Bing-Wen Soong   +9 more
doaj   +1 more source

Cerebellar glutamatergic system impacts spontaneous motor recovery by regulating Gria1 expression

npj Regenerative Medicine, 2022
Peripheral nerve injury (PNI) often results in spontaneous motor recovery; however, how disrupted cerebellar circuitry affects PNI-associated motor recovery is unknown.
Pallavi Asthana, Gajendra Kumar, Lukasz M. Milanowski, Ngan Pan Bennett Au, Siu Chung Chan, Jianpan Huang, Hemin Feng, Kin Ming Kwan, Jufang He, Kannie Wai Yan Chan, Zbigniew K. Wszolek, Chi Him Eddie Ma   +11 more
doaj   +1 more source

Splice isoform-specific suppression of the CaV2.1 variant underlying spinocerebellar ataxia type 6

Neurobiology of Disease, 2011
Spinocerebellar ataxia type 6 (SCA6) is an inherited neurodegenerative disease caused by a polyglutamine (polyQ) expansion in the CaV2.1 voltage-gated calcium channel subunit (CACNA1A).
Wei-Ling Tsou, Bing-Wen Soong, Henry L. Paulson, Edgardo Rodríguez-Lebrón   +3 more
doaj   +1 more source

Plasma PolyQ-ATXN3 Levels Associate With Cerebellar Degeneration and Behavioral Abnormalities in a New AAV-Based SCA3 Mouse Model

Frontiers in Cell and Developmental Biology, 2022
Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited cerebellar ataxia caused by the expansion of a polyglutamine (polyQ) repeat in the gene encoding ATXN3.
Karen Jansen-West, Tiffany W. Todd, Tiffany W. Todd, Lillian M. Daughrity, Mei Yue, Jimei Tong, Yari Carlomagno, Yari Carlomagno, Giulia Del Rosso, Giulia Del Rosso, Aishe Kurti, Caroline Y. Jones, Judith A. Dunmore, Monica Castanedes-Casey, Dennis W. Dickson, Dennis W. Dickson, Zbigniew K. Wszolek, John D. Fryer, John D. Fryer, Leonard Petrucelli, Leonard Petrucelli, Mercedes Prudencio, Mercedes Prudencio   +22 more
doaj   +1 more source

The Contribution of the Cerebellum to Cognition in Spinocerebellar Ataxia Type 6

Behavioural Neurology, 2010
This study sought evidence for a specific cerebellar contribution to cognition by characterising the cognitive phenotype of Spinocerebellar Ataxia Type 6 (SCA-6); an autosomal dominant genetic disease which causes a highly specific late-onset cerebellar ...
Freya E. Cooper, Manon Grube, Kelly J. Elsegood, John L. Welch, Thomas P. Kelly, Patrick F. Chinnery, Timothy D. Griffiths   +6 more
doaj   +1 more source

Frequency of the different mutations causing spinocerebellar ataxia (SCA1, SCA2, MJD/SCA3 and DRPLA) in a large group of Brazilian patients Freqüência das mutações que causam ataxia espinocerebelar (SCA1, SCA2, MJD/SCA3 e DRPLA) em um grupo numeroso de pacientes Brasileiros

Arquivos de Neuro-Psiquiatria, 1997
Spinocerebellar ataxia type 1 (SCA1), spinocerebellar ataxia type 2 (SCA2) and Machado-Joseph disease or spinocerebellar ataxia type 3 (MJD/SCA3) are three distinctive forms of autosomal dominant spinocerebellar ataxia (SCA) caused by expansions of an ...
Iscia Lopes-Cendesi, Hélio G.A. Teive, Maria E Calcagnotto, Jaderson C. da Costa, Francisco Cardoso, Erika Viana, Jaime A. Maciel, João Radvany, Walter O. Arruda, Paulo C. Trevisol-Bittencourt, Pedro Rosa Neto, Isabel Silveira, Carlos E. Steiner, Walter Pinto-Júnior, André S. Santos, Ylmar Correa Neto, Lineu C. Werneck, Abelardo Q.C. Araújo, Gerson Carakushansky, Luiz R. Mello, Laura B. Jardim, Guy A. Rouleau   +21 more
doaj   +1 more source

A case report of late-onset cerebellar ataxia associated with a rare p.R342W TGM6 (SCA35) mutation

BMC Neurology, 2020
Background Mutations in TGM6 gene, encoding for transglutaminase 6 (TG6), have been implicated in the pathogenesis of spinocerebellar ataxia type 35 (SCA35), a rare autosomal dominant disease marked by cerebellar degeneration and characterized by ...
Arianna Manini, Tommaso Bocci, Alice Migazzi, Edoardo Monfrini, Dario Ronchi, Giulia Franco, Anna De Rosa, Ferdinando Sartucci, Alberto Priori, Stefania Corti, Giacomo Pietro Comi, Nereo Bresolin, Manuela Basso, Alessio Di Fonzo   +13 more
doaj   +1 more source

Different subregional metabolism patterns in patients with cerebellar ataxia by 18F-fluorodeoxyglucose positron emission tomography. [PDF]

PLoS ONE, 2017
We evaluated cerebellar subregional metabolic alterations in patients with cerebellar ataxia, a representative disease involving the spinocerebellum. We retrospectively analyzed 18F-fluorodeoxyglucose positron emission tomography (18F-FDG PET) images in ...
Minyoung Oh, Jae Seung Kim, Jungsu S Oh, Chong Sik Lee, Sun Ju Chung   +4 more
doaj   +1 more source