Disorder | Distinguishing features | Gene or locus | Protein |
SPAX2 | Cerebellar ataxia, dysarthria, lower-limb spasticity | KIF1C | Kinesin family member 1C |
SPAX3 | Gait ataxia, spasticity, hyperreflexia | MARS2 | Methionyl-tRNA synthetase2, mitochondrial |
SPAX4 | Spastic paraparesis, dysarthria, optic atrophy | MTPAP | Mitochondrial poly(A) polymerase |
SPAX5 | Ataxia, myoclonic epilepsy, oculomotor apraxia, early-onset spasticity | AFG3L2 | AFG3-like matrix AAA peptidase subunit 2 |
SPAX6 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (cerebellar ataxia, pyramidal tract signs, peripheral neuropathy) | SACS | Sacsin molecular chaperone |
SPAX8 | Spastic ataxia, hypomyelinating leukodystrophy, hypotonia, pyramidal syndrome | NKX6-2 | NK6 homeobox 2 |
SPAX9 | Spastic ataxia, axial hypotonia, distal muscle atrophy, pyramidal symptoms | CHP1 | Calcineurin-like EF-hand protein 1 |
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