Search Term: Neuronal Ceroid Lipofuscinosis 1 (NCL1)
Breeds
Relevance Rating: There is some evidence or research available for these 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
Disease Name
Neuronal Ceroid Lipofuscinosis 1 (NCL1)
OMIA
1504
Gene Name
PPT1
Mutation
c.4009C>T
Mutation 2
c.736_737insC
OMIM
256730
Disease Code
NCL1
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. Severe vision loss or full blindness. By 9 months of age weakness, trouble balancing, difficulty walking, a rounded back, nervousness and disorientation
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. Severe vision loss or full blindness. By 9 months of age weakness, trouble balancing, difficulty walking, a rounded back, nervousness and disorientation
Published
Sanders, DN., Farias, FH., Johnson, GS., Chiang, V., Cook, JR., O'Brien, DP., Hofmann, SL., Lu, JY., Katz, ML. : A mutation in canine PPT1 causes early onset neuronal ceroid lipofuscinosis in a Dac
Published 2
TECPR2 Associated Neuroaxonal Dystrophy in Spanish Water Dogs. PLoS One 10:e0141824, 2015. Pubmed reference: 26555167. DOI: 10.1371/journal.pone.0141824.
Body/System/Process
Metabolic
OMIA Url
Inheritance
AR
Gene Name Text
palmitoyl-protein thioesterase 1
GTPs
Heidelberg, BW
DE
DE
Generatio GmbH Center for Animal Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing Out Sourced Testing Participation Pending Supporter
Toronto, Ontario
CA
CA
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
Saint-Petersburg
RU
RU
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
St. Kilda, Victoria
AU
AU
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
Wageningen
NL
NL
VHL Genetics
HGTD Leadership Sponsor Test Discovery- GTP In House Testing ISO Accredited/ GTP ISO Accredited/LAB Out Sourced Testing Supporter
Vancouver, Washington
US
US
Wisdom Panel - Kinship
HGTD Leadership Sponsor Test Discovery- GTP Other Recognized Accreditation Out Sourced Testing Participation Pending Sponsor
Zagreb
HR
HR