Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era

Table 1 Autosomal recessive cerebellar ataxias

Type	Gene/protein	Gene OMIM#	Gene locus
Degenerative ataxias
Friedreich's ataxia	FXN/Frataxin	*606829	9q13
SCAR9	ADCK3/aarF domain-containing protein kinase 3	*606980	1q42.13
MIRAS	POLG/Polymerase γ	*174763	15q25
IOSCA (MTDPS7)	C10orf2/Twinkle	*606075	10q24
Marinesco-Sjögren syndrome	SIL1/BiP associated protein	*608005	5q31
Charlevoix-Saguenay spastic ataxia	SACS/Sacsin	*604490	13q12
ΕΟCARR (EOCA)	-	-	13q11-12
Ataxias with DNA repair defects
ΑΟΑ1	APTX/Aprataxin	*606350	9p13.3
ΑΟΑ2 (SCAR1)	SETX/Senataxin	*608465	9q34
AOA3	PIK3R5/Phosphoinositide 3-kinase regulatory subunit 5	*611317	17p13.1
AT	ATM/ATM	*607585	11q22.3
ATLD	MRE11A/MRE11	*600814	11q21
SCAN1	TDP1/Tyrosyl DNA phosphodiesterase I	*607198	14q31-q32
Congenital ataxias
JBTS1	INPP5E/Phosphatidylinositol polyphosphate 5-phosphatase type IV	*613037	9q34.3
JBTS2	TMEM216/transmembrane protein 216	*613277	11p12-q13.3
JBTS3	ΑΗΙ1/Jouberin	*608894	6q23.3
JBTS4	NPHP1/Nephrocystin-1	*607100	2q13
JBTS5	CEP290/Nephrocystin-6	*610142	12q21.3
JBTS6	TMEM67/Meckelin	*609884	8q22.1
JBTS7	RPGRIP1L/Nephrocystin-8	*610937	16q12.2
Cayman ataxia	ATCAY/Caytaxin	*608179	19p13.3
Metabolic ataxias
AVED (VED)	α-TTP/α-tocopherol transfer protein	*600415	8q13.1-q13.3
ABL	MTP/Microsomal triglyceride transfer protein	*157147	4q22-24
CTX	CYP27/Sterol 27-hydroxylase	*606530	2q33-qter
Refsum’s disease	PHYH/Phytanoyl-CoA hydrolase	*602026	10pter-p11.2
	PEX7/Peroxin 7	*601757	6q22-q24
Metachromatic leucodystrophy	ARSA/Arylsulfatase 1	*607574	22q13.31-qter
Niemann Pick disease type C	NPC1/NPC1 protein	*607623	18q11-q12
GM1 gangliosidosis	GLB1/Beta-galactosidase	*611458	3p21.33
GM2 gangliosidosis	HEXA/Hexosaminidase A	*606869	15q23-24
Wilson disease	ATP7B/ΑΤPase Cu transporting beta-polypeptide	*606882	13q14.3
Aceruloplasminemia	CP/Ceruloplasmin	*117700	3q23-q24
CHAC	VPS13A/Chorein	*605978	9q21
Other recently identified types
SCAR8	SYNE1/Syne-1	*608441	6q25.1-q25.2
Rundataxin-related ataxia	KIAA0226/Rundataxin	*613516	3q27.3-qter
Novel types identified by the use of next-generation sequencing
SCAR10	ANO10/Anoctamin 10	*613726	3p22.1
SCAR11	SYT14/Synaptotagmin XIV	*610949	1q32.2
SCAR7	TPP1/tripeptidyl-peptidase 1 enzyme	*607998	11p15.4
Autosomal-recessive cerebellar ataxia with spasticity	GBA2/β-glucosidase 2	*609471	9p13.3
SCAR13	GRM1/Metabotropic glutamate receptor 1	*604473	6q24.3

SCAR9: Spinocerebellar ataxia autosomal recessive type 9; MRAS: Mitochondrial recessive ataxic syndrome; IOSCA: Infantile-onset spinocerebellar ataxia; AOA: Ataxias with oculomotor apraxia; AT: Ataxia telangiectasia; ATLD: Ataxia-telangiectasia-like disorder; SCAN1: Spinocerebellar ataxia with axonal neuropathy; CTX: Cerebrotendinous xanthomatosis; CHAC: Chorea-acanthocytosis.