Neuronal Ceroid Lipofuscinosis 4a (NCL4a)
Breed: American Bully
Generic Phene Data
Breeds
Relevance Rating: There is some evidence or research available in this breed
Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds
General
Disease Name
Neuronal Ceroid Lipofuscinosis 4a (NCL4a)
OMIA
1503
Gene Name
ARSG
Mutation
c.296G>A
Test Type
Genetic Disease/Disorder
Details
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Symptoms (3-5 years of age) : problems with balance, abnormal eye movements and stiffening of the body. Disease progression: Difficulty in walking, frequent falling, seizures, and behavioural changes
Details 2
The Neuronal ceroid lipofuscinosis (NCLs) are a group of inherited neurodegenerative diseases characterized by accumulation of autofluorescent cytoplasmic antibodies within cells of the nervous system. Affected dogs typically exhibit a condition of cerebellar dysfunction in which voluntary muscular movements tend to result in loss of control and coordination. Symptoms (3-5 years of age) : problems with balance, abnormal eye movements and stiffening of the body. Disease progression: Difficulty in walking, frequent falling, seizures, and behavioural changes
Published
Abitbol, M., Thibaud, J.L., Olby, N.J., Hitte, C., Puech, J.P., Maurer, M., Pilot-Storck, F., Hedan, B., Dreano, S., Brahimi, S., Delattre, D., Andre, C., Gray, F., Delisle, F., Caillaud, C., Bernex, F., Panthier, J.J., Aubin-Houzelstein, G., Blot, S., Tiret, L. : A canine Arylsulfatase G (ARSG) mutation leading to a sulfatase deficiency is associated with neuronal ceroid lipofuscinosis. Proc Natl Acad Sci U S A 107:14775-80, 2010. Pubmed reference: 20679209. DOI: 10.1073/pnas.0914206107.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
HSP Test-Specific Data
Genomia s.r.o
GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Synonym
NCL-A
Gene Name
ARSG
Mutation
c.296G>A
Mutation Comment
g.15071276G>A
PharmaDNA
GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
INNO
GTP
GTP Name
INNO
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
Paw Print Genetics
GTP
GTP Name
Paw Print Genetics
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
Nature of test
mutation test
FCI Number
-20
Independent Veterinary Laboratory POISK
GTP
GTP Name
Independent Veterinary Laboratory POISK
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
Agrotis S.r.l.
GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
BioBank AS
GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
Generatio GmbH Center for Animal Genetics
GTP
GTP Name
Generatio GmbH Center for Animal Genetics
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
Laboratorios Labocor S.L.
GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
Certagen GmbH
GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
AnimaLabs
GTP
GTP Name
AnimaLabs
Breed
OMIA
VHL Genetics
GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
Zoolyx
GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
CMSCH
GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
Progènes-ADN
GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
ARSG
Mutation
c.296G>A
Key Comment