. 2014 Jun 24;28(4):1186–1198. doi: 10.1111/jvim.12383

Table 3.

Neurologic diseases in dogs with their known underlying molecular defects

Phenotype	Gene	Variant	Breed	OMIA	Reference
Alpha fucosidosis	FUCA1	c.376_389del14	English Springer Spaniel	000396‐9615	27, 28
Bandera's neonatal cerebellar ataxia	GRM1	c.2316_2317ins62	Coton de Tulear	000078‐9615	18
Cerebellar abiotrophy (spinocerebellar ataxia type 5)	SPTBN2	c.5921_5928del8	Beagle	000175‐9615	8
Cerebellar ataxia	SEL1L	c.1972T>C	Finnish Hound	001692‐9615	9
Congenital myasthenic syndrome	CHAT	c.622G>A	Old Danish Pointing Dog	000685‐9615	29
Degenerative myelopathy	SOD1	c.118G>A	Many	000263‐9615	11
Degenerative myelopathy	SOD`	c.51A>T	Bernese Mountain Dog	000263‐9615	16
Encephalopathy	SLC19A3	c.624 insTTGC	Alaskan Husky	001097‐9615	30
Episodic falling	BCAN	16 kb deletion	Cavalier King Charles Spaniel	001592‐9615	31
Exercise‐induced collapse	DNM1	c.767G>T	Labrador Retriever	001466‐9615	21
Globoid cell leukodystrophy (Krabbe disease)	GALC	c.473A>C	Cairn Terrier/West Highland White Terrier	000578‐9615	32
Globoid cell leukodystrophy (Krabbe disease)	GALC	c.790_791ins78	Setter	000578‐9615	33
GM1 gangliosidosis	GLB1	c.1688_1706dup19	Alaskan Husky	000402‐9615	34
	GLB1	c.179G>A	Portugese Water Dog	000402‐9615	35
	GLB1	c.1647delC	Shiba	000402‐9615	35
GM2 gangliosidosis (Tay Sachs disease)	HEXA	c.967G>A	Japanese Chin Dog	001461‐9615	36
GM2 gangliosidosis (Sandhoff disease)	HEXB	c.283delG	Toy Poodle	001462‐9615	37
Juvenile benign epilepsy	LGI2	c.1552A>T	Lagotto Romagnolo	001596‐9615	26
L‐2‐hydroxyglutaric aciduria	L2HGDH	c[1297T>C;1299C>T]	Staffordshire Bullterrier	001371‐9615	38
L‐2‐hydroxyglutaric aciduria	L2HGDH	c.1A>G	Yorkshire Terrier	001371‐9615	39, 40
Mucopolysaccharidosis I	IDUA	c.155+1G>A	Plott Hound	000664‐9615	41
Mucopolysaccharidosis IIIA	SGSH	c.708_709insC	New Zealand Huntaway	001309‐9615	42
Mucopolysaccharidosis IIIB	NAGLU	Insertion	Schipperke	001342‐9615	43
Mucopolysaccharidosis VI	ARSB	Exon 5 G>A	Miniature Pinscher	000666‐9615	¹
Mucopolysaccharidosis VI	ARSB	c.103_124del22	Miniature Poodle	000666‐9615	44
Myoclonus epilepsy (Lafora disease)	NHLRC1	12 bp repeat expansion	Dachshund	000690‐9615	45
Myotonia	CLCN1	c.803C>T	Miniature Schnauzer	000698‐9615	46
Myotonia	CLCN1	c.2665_2666insA	Australian Cattle Dog	000698‐9615	47
Narcolepsy	HCRTR2	SINE insertion intron 3	Doberman Pinscher	000703‐9615	48
	HCRTR2	c.1105+5G>A	Labrador Retriever	000703‐9615	48
	HCRTR2	c.160G>A	Dachshund	000703‐9615	49
NCL, adult onset	ATP13A2	c.1623delG	Tibetan Terrier	001552‐9615	50, 51
NCL 1	PPT1	c.736_737insC	Dachshund	001504‐9615	15
NCL 2	TPP1	c.325delC	Dachshund	001472‐9615	14
NCL 4a	ARSG	c.296G>A	Am. Staffordshire Terrier	001503‐9615	52
NCL 5	CLN5	c.619C>T	Border Collie	001482‐9615	53
NCL 6	CLN6	c.829T>C	Australian Shepherd	001443‐9615	54
NCL 8	CLN8	c.491C>T	English Setter	001506‐9615	55
NCL 10	CTSD	c.597G>A	American Bulldog	001505‐9615	6
Neonatal encephalopathy with seizures	ATF2	c.152T>G	Poodle	001471‐9615	56
Neuroaxonal dystrophy	MFN2	c.1617_1619delGGA	Giant Schnauzer	000715‐9615	57
Polyneuropathy	NDRG1	c.1080_1089del10	Greyhound	001292‐9615	25
Polyneuropathy	NDRG1	c.293G>T	Alaskan Malamute	001292‐9615	58
Polyneuropathy, LPN1	ARHGEF10	c.1955_1958+6del10	Leonberger & St. Bernard	001917‐9615	–²
Sensory ataxic neuropathy	MT‐TY (tRNA‐Tyr)	mtDNA:g.5304delT	Golden Retriever	001467‐9615	59
Shaking pup, tremor X‐linked	PLP1	c.110A>C	Springer Spaniel	000770‐9615	60
Spinocerebellar ataxia (late onset)	CAPN1	c.344C>T	Parson Russell Terrier & Jack Russell Terrier	001820‐9615	19
Spinocerebellar ataxia with myokymia, seizures, or both	KCNJ10	c.627C>G	Jack Russell Terrier, Parson Russell Terrier & Russell Terrier	–	13
Spongiform leukoencephalomyelopathy	CYTB	mtDNA:g.14474G>A	Australian Cattle Dog/Shetland Sheepdog	001130‐9615	61
Startle disease (hyperekplexia)	SLC6A5	4.2 kb deletion	Irish setter	001594‐9615	62

OMIA, Online Mendelian Inheritance in Animals.2