This report describes a potential model for autosomal recessive spinocerebellar ataxia 14 (SCAR14), which is a subtype of spinocerebellar ataxia. The human gene implicated in this disease is SPTBN2, which encodes non-erythrocytic beta spectrin 2, a subunit of the spectrin heterotetramer. This gene is also associated with the disease spinocerebellar ataxia 5 (OMIM:600224), which exhibits autosomal dominant inheritance. There is one high-scoring fly ortholog, β-Spec, for which RNAi targeting constructs, alleles caused by insertional mutagenesis, and classical amorphic alleles have been generated.
Multiple UAS constructs of the human Hsap\SPTBN2 gene have been introduced into flies, including wild-type SPTBN2 and SPTBN2 genes carrying mutational lesions.
Using variants implicated in spinocerebellar ataxia 5 (FBhh0000064), the work done thus far in flies specifically models that disease.
[updated Dec. 2017 by FlyBase; FBrf0222196]
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years (Palau and Espinos, 2006; pubmed:17112370).
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. [from Gene Reviews, Hereditary Ataxia Overview; pubmed:20301317; 2017.06.16]
[SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; SCAR14](https://omim.org/entry/615386)
[SPECTRIN, BETA, NONERYTHROCYTIC, 2; SPTBN2](https://omim.org/entry/604985)
Autosomal recessive spinocerebellar ataxia-14 is a neurologic disorder characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability (summary by Lise et al., 2012, pubmed:23236289). [From OMIM:615386, 2015.12.21]
SPTBN2 is one of the subunits of spectrin, a heterotetramer made up of 2 alpha subunits and 2 beta subunits. Short actin filaments link spectrin tetramers together to form a flexible network that stabilizes cell contacts, channels, and adhesion molecules along the cytoplasmic face of membrane bilayers (summary by Clarkson et al., 2010, pubmed:20603325). [From OMIM:604985, 2015.10.29]