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 | |
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 | |
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 | |
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 | |
L-2-Hydroxyglutaric aciduria | L2HGDH | 236792 | Psychomotor retardation, epilepsy, macrocephaly, cerebellar ataxia, infantile onset, subcortical leukoencephalopathy and cerebellar atrophy | Metabolic disorder | |
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 |