This report describes spinocerebellar ataxia 28 (SCA28), which is a subtype of spinocerebellar ataxia; SCA28 exhibits autosomal dominant inheritance. SCA28 is one of several neurodegenerative disorders caused by mutations in AFG3L2, which encodes the catalytic subunit of the m-AAA protease, an ATP-dependent proteolytic complex of the mitochondrial inner membrane. See the report for neurodegenerative disease, AFG3L2-related (FBhh0001301) for information on experimental results using Drosophila models of this and related diseases.
[updated Jan. 2021 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 28; SCA28](https://omim.org/entry/610246)
[AFG3-LIKE MATRIX AAA PEPTIDASE, SUBUNIT 2; AFG3L2](https://omim.org/entry/604581)
SCA28 is a juvenile onset, slowly progressive form of the disease. [from MIM:610246; 2021.01.11]
Spinocerebellar ataxia-28 (SCA28) is caused by heterozygous mutation in the AFG3L2 gene. [from MIM:610246; 2021.01.11]
AFG3L2 is the catalytic subunit of the m-AAA protease, an ATP-dependent proteolytic complex of the mitochondrial inner membrane that degrades misfolded proteins and regulates ribosome assembly (summary by Koppen et al., 2007; pubmed:17101804). [from MIM:604581; 2021.01.11]
