Results 41 to 50 of about 80,232 (259)

mGlu1 Receptors Monopolize the Synaptic Control of Cerebellar Purkinje Cells by Epigenetically Down-Regulating mGlu5 Receptors [PDF]

, 2018
In cerebellar Purkinje cells (PCs) type-1 metabotropic glutamate (mGlu1) receptors play a key role in motor learning and drive the refinement of synaptic innervation during postnatal development.
Atsu Aiba, Cristina Zappulla, Ferdinando Nicoletti, Francesca Liberatore, Giada Mascio, Giorgio Carmignoto, Giuseppe Battaglia, Harumi Nakao, Marta Motolese, Masahiko Watanabe, Micaela Zonta, Michele Madonna, Milena Cannella, Pamela Scarselli, Roberto Gradini, Serena Notartomaso, Valeria Bruno   +16 more
core   +2 more sources

Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel, Charlotte Hennessey, Hannah Lee, Pia Parekh, Sheng‐Han Kuo, Ami Kumar   +5 more
wiley   +1 more source

ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice [PDF]

, 2012
Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)31. This is thought to mediate toxic gain-of-function by protein aggregation and to affect RNA processing ...
Auburger, Georg, Azizov, Mekhman, Damrath, Ewa, Gispert, Suzana, Heck, Melanie V., Nowock, Joachim, Rüb, Udo, Seifried, Carola, Walter, Michael   +8 more
core   +3 more sources

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

The MRN complex is transcriptionally regulated by MYCN during neural cell proliferation to control replication stress [PDF]

, 2015
The MRE11/RAD50/NBS1 (MRN) complex is a major sensor of DNA double strand breaks, whose role in controlling faithful DNA replication and preventing replication stress is also emerging. Inactivation of the MRN complex invariably leads to developmental and/
A Dupre, A Gulino, A Kuzyk, A Shibata, A Soriani, A Wey, A Wey, AM Duursma, AM Taylor, B Argenti, B Ricci, B Shiotani, BR Stanton, C Bruhn, C Heil, CJ Thiele, CL Marcelis, D Dominguez-Sola, D Fruci, DW Felsher, EA Rahal, F Sardina, G Giannini, G Giannini, H van Bokhoven, HE Bryant, I Screpanti, J Buis, J Charron, J Lafrance-Vanasse, J Wu, K Schlacher, K Trenz, KA Cole, KH Chrzanowska, KK To, L Di Marcotullio, LJ Valentijn, M Cognet, M Murga, M Petroni, M Petroni, M Sahún-Roncero, M Wilda, M Wojewodzka, O Chayka, P Khongkow, PE Neiman, PJ Hurlin, PO Frappart, PS Knoepfler, R Moser, R Thompson, R Waltes, RS Williams, RV Pusapati, S Albini, S Biton, S Ray, S Rohban, S Sawai, S Ying, SV Srinivasan, TG Oliver, TH Stracker, V Colicchia, V Veschi, V Veschi, W Lutz, YC Chiang, YL Lin   +70 more
core   +1 more source

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report

BMC Medical Genetics, 2020
Background The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive
Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami   +8 more
doaj   +1 more source

Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

BMC Medical Genomics, 2023
Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention tremor, ataxic ...
Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi   +4 more
doaj   +1 more source

Proinflammatory activation of microglia in the cerebellum hyperexcites Purkinje cells to trigger ataxia

Pharmacological Research, 2023
Specific medications to combat cerebellar ataxias, a group of debilitating movement disorders characterized by difficulty with walking, balance and coordination, are still lacking.
Shu-Tao Xie, Wen-Chu Fan, Xian-Sen Zhao, Xiao-Yang Ma, Ze-Lin Li, Yan-Ran Zhao, Fa Yang, Ying Shi, Hui Rong, Zhi-San Cui, Jun-Yi Chen, Hong-Zhao Li, Chao Yan, Qipeng Zhang, Jian-Jun Wang, Xiao-Yang Zhang, Xiao-Ping Gu, Zheng-Liang Ma, Jing-Ning Zhu   +18 more
doaj   +1 more source

Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]

, 2019
Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore, Bolasco, Giulia, De Angelis, Luciana, De Gennaro, Vincenzo, Marazziti, Daniela, Naro, Fabio, Pellegrini, Manuela, Sala, Gina La, Tassinari, Valentina   +8 more
core   +1 more source