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FB2026_01
,
released March 12, 2026
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]
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 MIM: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 MIM:164400, 2015.10.27]
[SPINOCEREBELLAR ATAXIA 14; SCA14](https://omim.org/entry/605361)
[PROTEIN KINASE C, GAMMA; PRKCG](https://omim.org/entry/176980)
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]
This form of autosomal dominant spinocerebellar ataxia, SCA14, is caused by heterozygous mutation in PRKCG. [From MIM:605361 and MIM:176980, 2015.10.30]
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; MIM:176960). [From MIM:176980, 2015.12.14]
Many to many (3 human to 2 Drosophila) (See DIOPT, link below)