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Neuronal Ceroid Lipofuscinosis 4a (NCL4a)

Breed: American Staffordshire Terrier

Generic Phene Data

Breeds

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)
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.

Breed Specific Data

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
ARSG
Mutation
c.296G>A

VHL Genetics

GTP Name
VHL Genetics
Gene Name
ARSG
Mutation
c.296G>A

VetGen LLC

GTP Name
VetGen LLC
Gene Name
ARSG
Mutation
c.296G>A

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
ARSG
Mutation
c.296G>A

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
Gene Name
ARSG
Mutation
c.296G>A

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
ARSG
Mutation
c.296G>A

Paw Print Genetics

GTP Name
Paw Print Genetics
Gene Name
ARSG
Mutation
c.296G>A
Nature of test
mutation test
FCI Number
286

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
ARSG
Mutation
c.296G>A

INNO

GTP
GTP Name
INNO
Gene Name
ARSG
Mutation
c.296G>A

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
Gene Name
ARSG
Mutation
c.296G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Abitbol, M., Thibaud, J.L., Olby, N.J., Hitte, C., Puech, J.P., Maurer, M., Pilot-Storck, F., H??dan, B., Dr??ano, S., Brahimi, S., Delattre, D., Andr??, C., Gray, F., Delisle, F., Caillaud, C., Bernex,
Application in the Breed
Carriers may be bred to normal animals (N/ncl4a x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl4a x N/ncl4a) nor of affected animals (ncl4a/ncl4a). 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
Inheritance
AR
FCI Number
286
GTP Breed
American Staffordshire Terrier

Genomia s.r.o

GTP Name
Genomia s.r.o
Gene Name
ARSG
Mutation
c.296G>A
Nature of test
mutation test
FCI Number
286
GTP Breed
American Staffordshire Terrier

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Gene Name
ARSG
Mutation
c.296G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Proc Natl Acad Sci U S A 107:14775-80, 2010

CMSCH

GTP
GTP Name
CMSCH
Gene Name
ARSG
Mutation
c.296G>A

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
ARSG
Mutation
c.296G>A

CAG GmbH Center for Animal Genetics

GTP Name
Center for Animal Genetics
Gene Name
ARSG
Mutation
c.296G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Abitbol, M., Thibaud, J.L., Olby, N.J., Hitte, C., Puech, J.P., Maurer, M., Pilot-Storck, F., H??dan, B., Dr??ano, S., Brahimi, S., Delattre, D., Andr??, C., Gray, F., Delisle, F., Caillaud, C., Bernex,
Application in the Breed
Carriers may be bred to normal animals (N/ncl4a x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl4a x N/ncl4a) nor of affected animals (ncl4a/ncl4a). 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
Inheritance
AR
FCI Number
286
GTP Breed
American Staffordshire Terrier

BioBank AS

GTP Name
BioBank AS
Gene Name
ARSG
Mutation
c.296G>A

Antagene

GTP
GTP Name
Antagene
Gene Name
ARSG
Mutation
c.296G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Abitbol, M., Thibaud, J.L., Olby, N.J., Hitte, C., Puech, J.P., Maurer, M., Pilot-Storck, F., H??dan, B., Dr??ano, S., Brahimi, S., Delattre, D., Andr??, C., Gray, F., Delisle, F., Caillaud, C., Bernex,
Application in the Breed
Carriers may be bred to normal animals (N/ncl4a x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl4a x N/ncl4a) nor of affected animals (ncl4a/ncl4a). 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
Inheritance
AR
FCI Number
286
GTP Breed
American Staffordshire Terrier

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
ARSG
Mutation
c.296G>A
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