Autosomal recessive ataxias described or named outside of the SCAR classification

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

SCAR: autosomal recessive spinocerebellar ataxia; FRDA: Friedreich ataxia; AVED: ataxia with vitamin E deficiency; AT: ataxia-telangiectasia; ATM: ataxia-telangiectasia mutated; ATLD: ataxia-telangiectasia-like disorder; XP: xeroderma pigmentosum; XPA: XPA, DNA damage recognition and repair factor; CS: Cockayne syndrome; ERCC: excision repair cross-complementation; RIDL: radiosensitivity, immunodeficiency, dysmorphic facial features, learning difficulties; MMDS6: multiple mitochondrial dysfunctions syndrome 6; CTX: cerebrotendinous xanthomatosis; CSF: cerebrospinal fluid; AXPC: posterior column ataxia-retinitis pigmentosa; CANVAS: cerebellar ataxia, neuropathy, and vestibular areflexia syndrome; ATCAY: Cayman cerebellar ataxia; GDPAG: global developmental delay, progressive ataxia, elevated glutamine; SANDO: sensory ataxia, neuropathy, dysarthria, ophthalmoparesis; WFS: Wolfram syndrome; MSS: Marinesco-Sjögren syndrome.
* Also categorized as an ataxia syndrome caused by impaired DNA repair mechanisms.

Data from: Online Mendelian Inheritance in Man.

Graphic 133265 Version 1.0

خرید پکیج

Autosomal recessive ataxias described or named outside of the SCAR classification