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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
GTPs
General
Disease Name
Neuronal Ceroid Lipofuscinosis 1 (NCL1)
OMIA
1504
Gene Name
PPT1
Mutation
c.4009C>T
Mutation 2
c.736_737insC
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
