Autosomal recessive spinocerebellar ataxias characterized by spasticity, not yet classified with other SCARs

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

SCAR: autosomal recessive spinocerebellar ataxia; SPAX: spastic ataxia.

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