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 | |
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 | |
Late-onset GM2 gangliosidosis (Tay-Sachs, Sandhoff) | HEXA HEXB | 272800 268800 | Ataxia, dysarthria, intellectual impairment, extrapyramidal signs, adult onset, cerebellar atrophy | Lysosomal storage disease | |
SPARCA1 | SPTBN2 | 615386 | Ataxia, cognitive impairment, eye-movement abnormalities, early childhood onset, cerebellar atrophy | Allelic to SCA5 | |
SPAX5 | AFG3L2 | 614487 | Ataxia, spasticity, oculomotor apraxia, myoclonic epilepsy, neuropathy, dystonia, optic atrophy, childhood onset, cerebellar atrophy | Allelic to SCA28 | |
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 | |
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 | |
SPG7 | SPG7 | 607259 | Spasticity, pyramidal signs, cerebellar signs, optic neuropathy, ptosis, teenage or adult onset, cerebellar atrophy | HSP | |
SPG5 | CYP7B1 | 270800 | Spasticity, cerebellar and sensory ataxia, childhood or teenage onset, white matter lesions | HSP | |
SPG11 | KIAA1840 | 604360 | Spasticity, ataxia, cognitive impairment, sensorimotor neuropathy, childhood or teenage onset, thin corpus callosum, signal abnormalities in cervical cord | HSP | |
SPG46 | GBA2 | 614409 | Cerebellar ataxia, spastic dysarthria, mild cognitive impairment, hearing loss, cataracts, childhood onset, cerebellar and cerebral atrophy, thin corpus callosum | HSP | |
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 | |
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 | |
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 | |
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 |