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General Information
Name
spinocerebellar ataxia 14
FlyBase ID
FBhh0000069
Overview

This report includes information relevant to a potential model of spinocerebellar ataxia 14 (SCA14), which is a subtype of spinocerebellar ataxia. The human gene implicated in this disease is PRKCG, which encodes protein kinase C, gamma. There are two high-scoring fly orthologs, Pkc53E and inaC, for which RNAi targeting constructs, alleles caused by insertional mutagenesis, and classical amorphic alleles have been generated. The human gene has not yet been introduced into flies.

[updated Oct. 2016 by FlyBase; FBrf0222196]

Disease Summary Information
Parent Disease Summary: spinocerebellar ataxia, autosomal dominant
Symptoms and phenotype

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003, pubmed:14628900). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004 pubmed:15099544; Taroni and DiDonato, 2004, pubmed:15263894). [From OMIM:164400, 2015.10.27]

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias' (SCAs). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord; the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004 pubmed:15099544; Taroni and DiDonato, 2004, pubmed:15263894). [From OMIM:164400, 2015.10.27]

Specific Disease Summary: spinocerebellar ataxia 14
OMIM report

[SPINOCEREBELLAR ATAXIA 14; SCA14](https://omim.org/entry/605361)

Human gene(s) implicated

[PROTEIN KINASE C, GAMMA; PRKCG](https://omim.org/entry/176980)

Symptoms and phenotype

Spinocerebellar ataxia type 14 (SCA14) is characterized by slowly progressive cerebellar ataxia, dysarthria, and nystagmus. Axial myoclonus, cognitive impairment, tremor, and sensory loss may also be observed. Parkinsonian features including rigidity and tremor have been described in some families. Findings seen in other ataxia disorders (e.g., dysphagia, dysphonia) may also occur in SCA14. Age of onset ranges from childhood to the sixth decade. Life span is not shortened. [From GeneReviews, Spinocerebellar Ataxia Type 14, pubmed:20301573, 2015.12.14]

Genetics

This form of autosomal dominant spinocerebellar ataxia, SCA14, is caused by heterozygous mutation in PRKCG. [From OMIM:605361 and OMIM:176980, 2015.10.30]

Cellular phenotype and pathology
Molecular information

The PRKCG gene encodes protein kinase C, gamma, a member of the protein kinase C (PKC) gene family (see Coussens et al., 1986, pubmed:3755548 and PRKCA; OMIM:176960). [From OMIM:176980, 2015.12.14]

External links
Disease synonyms
SCA14
spinocerebellar ataxia 14; SCA14
spinocerebellar ataxia type 14
Ortholog Information
Human gene(s) in FlyBase
    Human gene (HGNC)
    D. melanogaster ortholog (based on DIOPT)
    Comments on ortholog(s)

    Many to many (3 human to 2 Drosophila) (See DIOPT, link below)

    Other mammalian ortholog(s) used
      D. melanogaster Gene Information (0)
      Synthetic Gene(s) Used (0)
      Summary of Physical Interactions (0 groups)
      Alleles Reported to Model Human Disease (Disease Ontology) (0 alleles)
      Genetic Tools, Stocks and Reagents
      Sources of Stocks
      Contact lab of origin for a reagent not available from a public stock center.
      Bloomington Stock Center Disease Page
      Selected mammalian transgenes
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila transgenes
      Allele
      Transgene
      Publicly Available Stocks
      RNAi constructs available
      Allele
      Transgene
      Publicly Available Stocks
      Selected Drosophila classical alleles
      Allele
      Allele class
      Mutagen
      Publicly Available Stocks
      References (3)