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Table 2 Other complex movement or multisystem recessive disorders that have prominent ataxia

From: Systematic review of autosomal recessive ataxias and proposal for a classification

Disorder Gene OMIM Clinical features and imaging findings Comment References
Abetalipoproteinemia MTTP 200100 Fat malabsorption symptoms, hypocholesterolemia, hypotriglyceridemia, acanthocytosis, Friedreich-like ataxia, neonatal onset, absence of cerebellar atrophy Multisystem [95]
Nieman Pick type C NPC1 257220 Vertical supranuclear ophtalmoplegia, ataxia, splenomegaly, childhood to adult onset, variable cerebellar or cerebral atrophy Multisystem [96, 97]
NPC2 607625
Refsum disease PAHX 266500 Retinitis pigmentosa, polyneuropathy, ataxia, increased CSF protein, anosmia, deafness, ichtyosis, teenage onset, elevated serum phytanic acid, absence of cerebellar atrophy Multisystem [98, 99]
Late-onset GM2 gangliosidosis (Tay-Sachs, Sandhoff) HEXA HEXB 272800 268800 Ataxia, dysarthria, intellectual impairment, extrapyramidal signs, adult onset, cerebellar atrophy Lysosomal storage disease [100102]
SPARCA1 SPTBN2 615386 Ataxia, cognitive impairment, eye-movement abnormalities, early childhood onset, cerebellar atrophy Allelic to SCA5 [9, 103]
SPAX5 AFG3L2 614487 Ataxia, spasticity, oculomotor apraxia, myoclonic epilepsy, neuropathy, dystonia, optic atrophy, childhood onset, cerebellar atrophy Allelic to SCA28 [104, 105]
Boucher-Neuhauser/Gordon Holmes syndrome PNPLA6 215470 Ataxia, hypogonadotropic hypogonadism, chorioretinal dystrophy or brisk reflexes, childhood onset, atrophy of cerebellum and pons Allelic to HSP39 [106, 107]
Gillespie syndrome ITPR1 206700 Non-progressive cerebellar ataxia, iris hypoplasia, cognitive impairment, neonatal onset, progressive cerebellar atrophy Allelic to SCA15/29 [108]
SPAX2/SPG58 KIF1C 611302 Spastic paraparesis, cerebellar ataxia, childhood or teenage onset, white matter changes in the internal capsule Spasticity predominant [109, 110]
SPG7 SPG7 607259 Spasticity, pyramidal signs, cerebellar signs, optic neuropathy, ptosis, teenage or adult onset, cerebellar atrophy HSP [111, 112]
SPG5 CYP7B1 270800 Spasticity, cerebellar and sensory ataxia, childhood or teenage onset, white matter lesions HSP [113, 114]
SPG11 KIAA1840 604360 Spasticity, ataxia, cognitive impairment, sensorimotor neuropathy, childhood or teenage onset, thin corpus callosum, signal abnormalities in cervical cord HSP [115, 116]
SPG46 GBA2 614409 Cerebellar ataxia, spastic dysarthria, mild cognitive impairment, hearing loss, cataracts, childhood onset, cerebellar and cerebral atrophy, thin corpus callosum HSP [117, 118]
Congenital disorders of glycosylation type 1A PMM2 212065 Psychomotor retardation, axial hypotonia, abnormal eye movements, peripheral neuropathy, congenital onset, cerebellar hypoplasia Neonatal onset, complex syndrome [119, 120]
LBSL DARS2 611105 Cerebellar ataxia, tremor, spasticity, dorsal column dysfunction, axonal neuropathy, childhood to adult onset, signal abnormalities in cerebral white matter and specific brainstem and spinal cord tracts Leukoencephalopathy [121, 122]
Mitochondrial complex IV deficiency COX20 220110 Cerebellar ataxia, dystonia, sensory axonal neuropathy, variable, childhood or teenage onset, cerebellar atrophy Dystonia predominant [123]
Aceruloplas-minemia CP 604290 Diabetes, dementia, movement disorder, cerebellar ataxia, retinal degeneration, late onset, decreased signal intensity in thalamus, basal ganglia and dentate nucleus Metabolic disorder [124]
Neurodegeneration with brain iron accumulation 2A and 2B PLA2G6 256600 Cerebellar ataxia, psychomotor retardation, psychiatric features, axonal sensorimotor neuropathy, infantile or teenage onset, cerebellar atrophy and variable iron accumulation in globus pallidus Neurodegeneration with brain iron accumulation [125, 126]
Poretti-Botshauser syndrome LAMA1 615960 Nonprogressive ataxia, oculomotor ataxia, psychomotor retardation, early childhood onset, cerebellar dysplasia with cysts Dystroglycanopathy [127]
Posterior column ataxia with retinitis pigmentosa FLVCR1 609033 Posterior column degeneration and retinitis pigmentosa, childhood onset, signal abnormalities in cervical spinal cord Sensory ataxia [128, 129]
  1. HSP hereditary spastic paraplegia, LBSL leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation, SPARCA1 spectrin-associated autosomal recessive cerebellar ataxia type 1, SPAX spastic ataxia, SPG spastic paraplegia