This report describes spastic ataxia 5 (SPAX5), which is a subtype of spastic ataxia; SPAX5 exhibits autosomal recessive inheritance. SPAX5 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]
Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. [from MIM:108600; 2021.01.11]
[SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE; SPAX5](https://omim.org/entry/614487)
[AFG3-LIKE MATRIX AAA PEPTIDASE, SUBUNIT 2; AFG3L2](https://omim.org/entry/604581)
Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011; pubmed:22022284). [from MIM:614487; 2021.01.11]
Autosomal recessive spastic ataxia-5 (SPAX5) is caused by homozygous or compound heterozygous mutation in the AFG3L2 gene. [from MIM:614487; 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]
