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Spinocerebellar ataxia type 14: refining clinicogenetic diagnosis in a rare adult-onset disorder.
Schmitz-Hübsch T, Lux S, Bauer P, Brandt AU, Schlapakow E, Greschus S, Scheel M, Gärtner H, Kirlangic ME, Gras V, Timmann D, Synofzik M, Giorgetti A, Carloni P, Shah JN, Schöls L, Kopp U, Bußenius L, Oberwahrenbrock T, Zimmermann H, Pfueller C, Kadas EM, Rönnefarth M, Grosch AS, Endres M, Amunts K, Paul F, Doss S, Minnerop M. Schmitz-Hübsch T, et al. Ann Clin Transl Neurol. 2021 Apr;8(4):774-789. doi: 10.1002/acn3.51315. Epub 2021 Mar 19. Ann Clin Transl Neurol. 2021. PMID: 33739604 Free PMC article.
OBJECTIVES: Genetic variant classification is a challenge in rare adult-onset disorders as in SCA-PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. ...INTERPRETATION: In this largest coho …
OBJECTIVES: Genetic variant classification is a challenge in rare adult-onset disorders as in SCA-PRKCG (prior spinocerebellar ata …
Investigation of Visual System Involvement in Spinocerebellar Ataxia Type 14.
Ihl T, Kadas EM, Oberwahrenbrock T, Endres M, Klockgether T, Schroeter J, Brandt AU, Paul F, Minnerop M, Doss S, Schmitz-Hübsch T, Zimmermann HG. Ihl T, et al. Cerebellum. 2020 Aug;19(4):469-482. doi: 10.1007/s12311-020-01130-w. Cerebellum. 2020. PMID: 32338350 Free PMC article.
Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conventional mutations in protein kinase Cgamma (PKCgamma). ...Despite this, none of the OCT measurements differed between groups. NEI-VFQ and N …
Spinocerebellar ataxia type 14 (SCA-PRKCG, formerly SCA14) is a rare, slowly progressive disorder caused by conv …
Transcriptome Profile of a New Mouse Model of Spinocerebellar Ataxia Type 14 Implies Changes in Cerebellar Development.
Mezey SE, Kapfhammer JP, Shimobayashi E. Mezey SE, et al. Genes (Basel). 2022 Aug 9;13(8):1417. doi: 10.3390/genes13081417. Genes (Basel). 2022. PMID: 36011327 Free PMC article.
The autosomal dominant inherited spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by cerebellar atrophy and loss of Purkinje neurons. Spinocerebellar ataxia type 14 (SCA14) is a rare variant of SCAs caused by miss …
The autosomal dominant inherited spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by cerebellar atrop …
Clinical and neurophysiological profile of four German families with spinocerebellar ataxia type 14.
Ganos C, Zittel S, Minnerop M, Schunke O, Heinbokel C, Gerloff C, Zühlke C, Bauer P, Klockgether T, Münchau A, Bäumer T. Ganos C, et al. Cerebellum. 2014 Feb;13(1):89-96. doi: 10.1007/s12311-013-0522-7. Cerebellum. 2014. PMID: 24030789
Spinocerebellar ataxia type 14 (SCA14) is an autosomal-dominant ataxia caused by point mutations of the Protein Kinase C Gamma gene. ...Most patients reported symptoms since early childhood. There was a positive correlation between age and SARA scor …
Spinocerebellar ataxia type 14 (SCA14) is an autosomal-dominant ataxia caused by point mutations of the Protein …
Pharmacological induction of heat shock proteins ameliorates toxicity of mutant PKCgamma in spinocerebellar ataxia type 14.
Nakazono A, Adachi N, Takahashi H, Seki T, Hamada D, Ueyama T, Sakai N, Saito N. Nakazono A, et al. J Biol Chem. 2018 Sep 21;293(38):14758-14774. doi: 10.1074/jbc.RA118.002913. Epub 2018 Aug 9. J Biol Chem. 2018. PMID: 30093405 Free PMC article.
Amyloid and amyloid-like protein aggregations are hallmarks of multiple, varied neurodegenerative disorders, including Alzheimer's and Parkinson's diseases. We previously reported that spinocerebellar ataxia type 14 (SCA14), a dominant-inherited neurod …
Amyloid and amyloid-like protein aggregations are hallmarks of multiple, varied neurodegenerative disorders, including Alzheimer's and Parki …
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma.
Yabe I, Sasaki H, Chen DH, Raskind WH, Bird TD, Yamashita I, Tsuji S, Kikuchi S, Tashiro K. Yabe I, et al. Arch Neurol. 2003 Dec;60(12):1749-51. doi: 10.1001/archneur.60.12.1749. Arch Neurol. 2003. PMID: 14676051
BACKGROUND: We previously discovered spinocerebellar ataxia type 14 (SCA14) in a single Japanese family with an autosomal dominant neurodegenerative disorder characterized by cerebellar ataxia and intermittent axial myoclonus. The latter manifestation …
BACKGROUND: We previously discovered spinocerebellar ataxia type 14 (SCA14) in a single Japanese family with an …
Comparison of two families with and without ataxia harboring novel variants in PRKCG.
Tada Y, Kume K, Noguchi S, Sekiya T, Nishinaka K, Ishiguchi H, Koh J, Emori S, Nakayama Y, Kurashige T, Izumi Y, Ito H, Sakai N, Kawakami H. Tada Y, et al. J Hum Genet. 2022 Oct;67(10):595-599. doi: 10.1038/s10038-022-01057-6. Epub 2022 Jun 28. J Hum Genet. 2022. PMID: 35760954
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant SCA caused by variants of the PRKCG encoding protein kinase C gamma (PKCgamma). ...The difference in severity between the two families may be due to the difference in solubility changes …
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant SCA caused by variants of the PRKCG encoding pro …
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N. Adachi N, et al. J Biol Chem. 2008 Jul 11;283(28):19854-63. doi: 10.1074/jbc.M801492200. Epub 2008 May 22. J Biol Chem. 2008. PMID: 18499672 Free article.
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disease caused by mutations in protein kinase Cgamma (PKCgamma). ...Although in vitro kinase assays revealed that most C1 domain mutants are constitutively active, they c …
Spinocerebellar ataxia type 14 (SCA14) is an autosomal dominant neurodegenerative disease caused by mutations in …
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells.
Seki T, Shimahara T, Yamamoto K, Abe N, Amano T, Adachi N, Takahashi H, Kashiwagi K, Saito N, Sakai N. Seki T, et al. Neurobiol Dis. 2009 Feb;33(2):260-73. doi: 10.1016/j.nbd.2008.10.013. Epub 2008 Nov 8. Neurobiol Dis. 2009. PMID: 19041943
Missense mutations in protein kinase Cgamma (gammaPKC) gene have been found in spinocerebellar ataxia type 14 (SCA14), an autosomal dominant neurodegenerative disease. ...Adenovirus-transfected primary cultured PCs expressing mutant gammaPKC-GFP also h …
Missense mutations in protein kinase Cgamma (gammaPKC) gene have been found in spinocerebellar ataxia type 14 (S …
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy.
Yamamoto K, Seki T, Adachi N, Takahashi T, Tanaka S, Hide I, Saito N, Sakai N. Yamamoto K, et al. Genes Cells. 2010 May;15(5):425-38. doi: 10.1111/j.1365-2443.2010.01395.x. Epub 2010 Apr 11. Genes Cells. 2010. PMID: 20398063 Free article.
Several causal missense mutations in the protein kinase Cgamma (gammaPKC) gene have been found in spinocerebellar ataxia type 14 (SCA14), an autosomal dominant neurodegenerative disease. ...Rapamycin, an autophagic inducer, accelerated clearance of agg …
Several causal missense mutations in the protein kinase Cgamma (gammaPKC) gene have been found in spinocerebellar ataxia ty …
17 results