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Neuronal Ceroid Lipofuscinosis 10 (NCL10)

Breed: American Bulldog

Generic Phene Data

General

Disease Name
Neuronal Ceroid Lipofuscinosis 10 (NCL10)
OMIA
1505
Gene Name
CTSD
Mutation
c.597G>A
OMIM
610127
Disease Code
NCL10
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. Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
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. Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Published
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofuscinosis. Mol Genet Metab 87:341-8, 2006. Pubmed reference: 16386934. DOI: 10.1016/j.ymgme.2005.11.005.
Body/System/Process
Metabolic
Inheritance
AR
Gene Name Text
cathepsin D

Breed Specific Data

EVG Diagnostics

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Mol Genet Metab. 2006 Apr;87(4):341-8

Genomia s.r.o

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test

Wisdom Health (formerly Mars Veterinary)

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

VHL Genetics

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

Paw Print Genetics

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test

Orivet Genetic Pet Care

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

Orthopedic Foundation for Animals

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

Laboklin Gmbh & Co. KG

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

Genoscoper Laboratories Oy

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

Embark

Link to GTP
GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

DNA My Dog

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

CAG GmbH Center for Animal Genetics

Link to GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

Antagene

Link to GTP
GTP
Gene Name
CTSD
Mutation
c.597G>A
Nature of test
mutation test
GTP- or Breed-Specific Publications
Awano, T., Katz, ML., O'Brien, DP., Taylor, JF., Evans, J., Khan, S., Sohar, I., Lobel, P., Johnson, GS. : A mutation in the cathepsin D gene (CTSD) in American Bulldogs with neuronal ceroid lipofus
Application in the Breed
Carriers can be bred to normal animals (N/ncl10 x N/N). Offspring should be tested before breeding. No breeding of two carriers (N/ncl10 x N/ncl10) nor of affected animals (ncl10/ncl10). Disease progression slow. Symptoms: lack of coordination, partial paralysis of the lower limbs. Seath around the age of 7 years.
Inheritance
AR

VetGen LLC

Link to GTP
Gene Name
CSTD
Mutation
c.597G>A
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