G2Cdb::Human Disease report

Disease id
D00000185
Name
Cerebellar ataxia (autosomal dominant)
Nervous system disease
yes

Genes (1)

Gene Name/Description Mutations Found Literature Mutations Type Genetic association?
G00002481 PRKCG
protein kinase C, gamma
Y (14694043) Single nucleotide polymorphism (SNP) Y
G00002481 PRKCG
protein kinase C, gamma
Y (16547918) Microinsertion (MI) Y

References

  • Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.

    Vlak MH, Sinke RJ, Rabelink GM, Kremer BP and van de Warrenburg BP

    Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.

    We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCgamma. While most affected subjects displayed a late-onset uncomplicated form of spinocerebellar ataxia with occasional mild extrapyramidal features (such as postural tremor), one patient presented with a very mild nonprogressive ataxia since the age of 3 years and predominant multifocal myoclonus.

    Movement disorders : official journal of the Movement Disorder Society 2006;21;7;1025-8

  • Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.

    van de Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP and Sinke RJ

    Department of Neurology, University Medical Center Nijmegen, the Netherlands.

    Objective: To report a Dutch family with autosomal dominant cerebellar ataxia (ADCA) based on a novel mutation in the PRKCG gene.

    Methods: The authors studied 13 affected members of the six-generation family. After excluding the known spinocerebellar ataxia (SCA) genes, a combination of the shared haplotype approach, linkage analysis, and genealogic investigations was used. Exons 4 and 5 of the candidate gene, PRKCG, were sequenced.

    Results: Affected subjects displayed a relatively uncomplicated, slowly progressive cerebellar syndrome, with a mean age at onset of 40.8 years. A focal dystonia in two subjects with an onset of disease in their early 20s suggests extrapyramidal features in early onset disease. Significant linkage to a locus on chromosome 19q was found, overlapping the SCA-14 region. Based on the recent description of three missense mutations in the PRKCG gene, located within the boundaries of the SCA-14 locus, we sequenced exons 4 and 5 of this gene and detected a novel missense mutation in exon 4, which involves a G-->A transition in nucleotide 353 and results in a glycine-to-aspartic acid substitution at residue 118.

    Conclusion: A SCA-14-linked Dutch ADCA family with a novel missense mutation in the PRKCG gene was identified.

    Neurology 2003;61;12;1760-5

Literature (2)

Pubmed - human_disease

  • Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype.

    Vlak MH, Sinke RJ, Rabelink GM, Kremer BP and van de Warrenburg BP

    Department of Neurology, University Medical Center Utrecht, Utrecht, The Netherlands.

    We report on a family with an autosomal dominant cerebellar ataxia in which we identified a novel mutation in exon 5 of the PRKCG/SCA14 gene that results in a Val138Glu substitution in the encoded protein PKCgamma. While most affected subjects displayed a late-onset uncomplicated form of spinocerebellar ataxia with occasional mild extrapyramidal features (such as postural tremor), one patient presented with a very mild nonprogressive ataxia since the age of 3 years and predominant multifocal myoclonus.

    Movement disorders : official journal of the Movement Disorder Society 2006;21;7;1025-8

Pubmed - other

  • Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family.

    van de Warrenburg BP, Verbeek DS, Piersma SJ, Hennekam FA, Pearson PL, Knoers NV, Kremer HP and Sinke RJ

    Department of Neurology, University Medical Center Nijmegen, the Netherlands.

    Objective: To report a Dutch family with autosomal dominant cerebellar ataxia (ADCA) based on a novel mutation in the PRKCG gene.

    Methods: The authors studied 13 affected members of the six-generation family. After excluding the known spinocerebellar ataxia (SCA) genes, a combination of the shared haplotype approach, linkage analysis, and genealogic investigations was used. Exons 4 and 5 of the candidate gene, PRKCG, were sequenced.

    Results: Affected subjects displayed a relatively uncomplicated, slowly progressive cerebellar syndrome, with a mean age at onset of 40.8 years. A focal dystonia in two subjects with an onset of disease in their early 20s suggests extrapyramidal features in early onset disease. Significant linkage to a locus on chromosome 19q was found, overlapping the SCA-14 region. Based on the recent description of three missense mutations in the PRKCG gene, located within the boundaries of the SCA-14 locus, we sequenced exons 4 and 5 of this gene and detected a novel missense mutation in exon 4, which involves a G-->A transition in nucleotide 353 and results in a glycine-to-aspartic acid substitution at residue 118.

    Conclusion: A SCA-14-linked Dutch ADCA family with a novel missense mutation in the PRKCG gene was identified.

    Neurology 2003;61;12;1760-5

© G2C 2014. The Genes to Cognition Programme received funding from The Wellcome Trust and the EU FP7 Framework Programmes:
EUROSPIN (FP7-HEALTH-241498), SynSys (FP7-HEALTH-242167) and GENCODYS (FP7-HEALTH-241995).

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