Search Term: Neuronal Ceroid Lipofuscinosis 12 (NCL12)
Breeds
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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 in this breed
Disease Name
Neuronal Ceroid Lipofuscinosis 12 (NCL12)
OMIA
1552
Gene Name
ATP13A2
Mutation
c.1623delG
Disease Code
NCL12
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. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
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. Behavioural changes, dementia, seizures, tremors, vision problems, ataxia, aggressiveness and cognitive decline (4-6 years of age)
Published
Farias et al., 2011, Neurobiology of Disease 42(3): A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Gene Name Text
ATPase type 13A2
GTPs
La Tour de Salvagny, N/A
FR
FR
Antagene
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Non-Participant Out Sourced Testing Any Patents Held
Boston, MA
US
US
Embark
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/LAB Out Sourced Testing Any Patents Held Sponsor
Maribor
SI
SI
EVG Diagnostics
In House Testing ISO Accredited/ GTP Non-Participant Other Recognized Accreditation Out Sourced Testing
Plzen
CZ
CZ
Genomia s.r.o
HGTD Leadership Sponsor In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Participation Pending
Bad Kissingen, Bavaria
DE
DE
Laboklin Gmbh & Co. KG
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB ISO Accredited/tests Other Recognized Accreditation Out Sourced Testing Participation Pending Any Patents Held Supporter
Columbia, Missouri
US
US
Orthopedic Foundation for Animals
HGTD Leadership Sponsor Test Discovery- GTP Non-Participant Out Sourced Testing
Spokane, Washington
US
US
Paw Print Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Non-Participant Other Recognized Accreditation Subsidiary Company
London, Borough of London
GB
GB
Naas, Co. Kildare
IE
IE
Weatherbys Scientific
In House Testing ISO Accredited/LAB ISO Accredited/tests Non-Participant Other Recognized Accreditation Out Sourced Testing Participation Pending Supporter
Zagreb
HR
HR