Disorder | Distinguishing features | Gene or locus | Protein |
FRDA1 | Friedreich ataxia 1 with or without retained reflexes | FXN | Frataxin |
AVED | Autosomal recessive ataxia with vitamin E deficiency | TTPA | Alpha-tocopherol transfer protein |
AT* | Ataxia-telangiectasia (telangiectasias, sinopulmonary infection, malignancy) | ATM | ATM serine/threonine kinase |
ATLD1* | Autosomal recessive ataxia telangiectasia-like disorder 1 (progressive cerebellar degeneration with ataxia and oculomotor apraxia) | MRE11A | MRE11 homolog, double strand break repair nuclease |
XP* | Xeroderma pigmentosum (photosensitivity, pigmentary skin changes, skin and oral cancers, iritis, corneal opacification, sensorineural hearing loss, intellectual disability, spasticity, areflexia, ataxia, dysphagia, peripheral neuropathy) | XPA, ERCC2, ERCC3, ERCC4, ERCC5, Others | Variable |
CS* | Cockayne syndrome (widened facial features, dwarfism, sensorineural deafness, ataxia) | ERCC6, ERCC8 | Variable |
RIDL* | Riddle syndrome (radiosensitivity, immunodeficiency, dysmorphic facial features, learning difficulties) | RNF168 | Ring finger protein 168 |
ATAD3A | Harel-Yoon syndrome (pontocerebellar hypoplasia, hypotonia, respiratory insufficiency) | ATAD3A | ATPase family, AAA domain containing 3A |
MMDS6 | Multiple mitochondrial dysfunctions syndrome 6 (hypotonia, ataxia, inability to walk, poor speech) | PMPCB | Peptidase, mitochondrial processing beta subunit |
CTX | Cerebrotendinous xanthomatosis (xanthelasmata, cerebellopyramidal signs, soft palate myoclonus) | CYP27A1 | Cytochrome P450 family 27 subfamily A member 1 |
Refsum | Retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, elevated CSF protein | PHYH | Phytanoyl-CoA2-hydroxylase |
AXPC1 | Posterior column ataxia with retinitis pigmentosa | FLVCR1 | Feline leukemia virus subgroup C cellular receptor 1 |
CANVAS | Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome | RFC1 | Replication factor C subunit 1 |
ATCAY | Cerebellar ataxia, Cayman type (hypotonia, truncal ataxia, intention tremor) | ATCAY | ATCAY, caytaxin |
GDPAG | Global developmental delay, progressive ataxia, elevated glutamine | GLS | Glutaminase |
SANDO | Sensory ataxic neuropathy, dysarthria, ophthalmoparesis | POLG | DNA polymerase gamma, catalytic subunit |
WFS1 | Wolfram syndrome (diabetes insipidus, diabetes mellitus, optic atrophy, deafness | WFS1 | Wolframin ER transmembrane glycoprotein |
MSS | Marinesco-Sjögren syndrome (congenital cataracts, cerebellar ataxia, myopathy, developmental delay) | SIL1 | SIL1 nucleotide exchange factor |
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