Spinocerebellar ataxia 14

A hereditary autosomal dominant spinocerebellar ataxia with a mean age of onset of 31 years. It is characterized primarily by GAIT ATAXIA; cerebellar DYSARTHRIA, slowed SACCADES, ocular dysmetria, and HYPERREFLEXIA. Mutations in the PRKCG gene have been identified. OMIM: 605361

Also Known As:

Networked: 8 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Cerebellar Ataxia (Dysmetria)

Experts

1.	Kapfhammer, Josef P: 3 articles (01/2017 - 10/2014)
2.	Shimobayashi, Etsuko: 3 articles (01/2017 - 10/2014)
3.	Wagner, Wolfgang: 1 article (10/2016)
4.	Hassler, Melanie L: 1 article (10/2014)
5.	Ji, Jingmin: 1 article (10/2014)
6.	Paka, Nagendher: 1 article (10/2014)
7.	Streit, Raphael: 1 article (10/2014)
8.	Landendinger, Melanie: 1 article (01/2007)
9.	Müller, Ulrich: 1 article (01/2007)
10.	Nolte, Dagmar: 1 article (01/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Spinocerebellar ataxia 14:

1.	protein kinase C gamma (PRKCG)IBA 01/01/2017 - "Increased biological activity of protein Kinase C gamma is not required in Spinocerebellar ataxia 14." 10/01/2016 - "In a recent transgenic mouse model of spinocerebellar ataxia 14, the ser361-to-gly (S361G) mutation of the protein kinase C gamma (PKCγ) gene was expressed in Purkinje cells. " 10/01/2014 - "Increased protein kinase C gamma activity induces Purkinje cell pathology in a mouse model of spinocerebellar ataxia 14." 01/15/2007 - "Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family." 06/01/2005 - "Missense mutations in the PRKCG gene have recently been identified in spinocerebellar ataxia 14 (SCA14) patients; these include the Gly118Asp mutation that we found in a large Dutch autosomal dominant cerebellar ataxia (ADCA) family. "
2.	Protein Kinases (Protein Kinase)IBA 11/01/2005 - "Point mutations in the gene encoding protein kinase Cgamma (PRKCG) are responsible for spinocerebellar ataxia 14 (SCA14). "
3.	Phosphotransferases (Kinase)IBA 02/01/2005 - "Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting."
4.	NucleotidesIBA 04/12/2005 - "Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. "