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Table 3 Recessive disorders that may occasionally present with ataxia, but where ataxia is a secondary feature

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

Disorder Gene OMIM Clinical features and imaging findings Comment References
Neuronal ceroid lipofuscinoses CLN5 CLN6 256731 601780 Psychomotor retardation, visual failure, seizures, childhood to teenage onset, cerebellar and cerebral atrophy Ataxia is a rare feature [130, 131]
Sialic acid storage diseases (ISSD and Salla disease) SLC17A5 604369 269920 Hypotonia, cerebellar ataxia and mental retardation, infantile to adult onset, cerebellar atrophy and demyelination Complex syndrome [132, 133]
Joubert syndrome AHI1, ARL13B, CC2D2A, others Many Ataxia, hypotonia, neonatal breathing abnormalities, mental retardation, nephronophtisis, congenital onset, agenesis of the cerebellar vermis Complex neonatal polygenic syndrome [134, 135]
Hartnup disorder SLC6A19 234500 Transient manifestations of pellagra, cerebellar ataxia and psychosis, amino aciduria, early onset Metabolic disorder [136]
Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease elF2B 603896 Cerebellar ataxia with spasticity. Rapid deterioration following head trauma or febrile illness, infantile to adult onset, diffusely abnormal cerebral white matter Leukodystrophy [137, 138]
L-2-Hydroxyglutaric aciduria L2HGDH 236792 Psychomotor retardation, epilepsy, macrocephaly, cerebellar ataxia, infantile onset, subcortical leukoencephalopathy and cerebellar atrophy Metabolic disorder [139, 140]
GOSR2-linked progressive myoclonus epilepsy GOSR2 614018 Ataxia, myoclonic epilepsy, raised creatine kinase, early childhood onset, variable cerebellar and cerebral atrophy Epileptic disorder [141]
Tremor-ataxia with central hypomyelination POLR3A 607694 Tremor, cerebellar ataxia, cognitive regression, UMN signs, childhood onset, hypomyelination of deep white matter, cerebellar atrophy, thin corpus callosum Leukodystrophy [142]
Recessive Behr’s syndrome OPA1 210000 Optic atrophy, ataxia, peripheral neuropathy, digestive symptoms, infantile or childhood onset, cerebellar atrophy Optic atrophy [143, 144]
  1. ISSD infantile sialic acid storage disease