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FB2026_03
,
released September 17, 2026
This report describes spinocerebellar ataxia 43 (SCA43), which is a subtype of spinocerebellar ataxia; SCA43 exhibits autosomal dominant inheritance. It is one of several diseases associated with the human gene MME (membrane metalloendopeptidase). See the human disease model report for 'neurodegenerative disease, MME-related' (FBhh0000631)for information on a Drosophila disease model using human MME.
[updated Sep. 2017 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 43; SCA43](https://omim.org/entry/617018)
[MEMBRANE METALLOENDOPEPTIDASE; MME](https://omim.org/entry/120520)
Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016; pubmed:27583304). [from MIM:617018; 2017.09.25]
Based one 5-generation pedigree, spinocerebellar ataxia-43 (SCA43) is caused by heterozygous mutation in the MME gene. [from MIM:617018; 2017.09.25]
MME (membrane metalloendopeptidase) encodes a neutral endopeptidase that cleaves peptides at the amino side of hydrophobic residues; it inactivates a number of peptide hormones including glucagon, enkephalins, substance P, neurotensin, angiotensin, oxytocin, bradykinin, and atrial natriuretic factor. [from Gene Cards, MME; 2017.09.25]
Many to many: multiple related genes in both species.