Neuronal ceroid lipofuscinosis (NCL)
Neuronal ceroid lipofuscinosis (NCL)
General description
NCL is a neurodegenerative disease: the clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.
Breeds
American Bulldog, Border Collie, Chihuahua, Chinese Crested Dog, English Setter, Golden Retriever, Goldendoodle, Gordon Setter, Italian Cane Corso, Saluki, Schapendoes, Small Swiss Hound, Tibetan Terrier
Detailed description
NCL is a neurodegenerative disease, caused by lysosomal storage dysfunction. The clinical course includes increasing levels of agitation and possible outbursts of aggression, hallucinations, hyperactivity and epileptic fits. Most animals lose their ability to coordinate everyday muscular activities. As the extent of neurodegeneration increases, all affected dogs develop psychological abnormalities and ataxia.
Neuronal Ceroid Lipofuszinosis CLN1
The symptoms described in the breed Italian Cane Corso can be found in the text above.
Order details
| Test number | 8075 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | PPT1 (CLN1) |
| Mutation | G-A |
| Literature | OMIA:001504-9615 |
Neuronal Ceroid Lipofuszinosis CLN10
The symptoms described in thebreed American Bulldog can be found in the text above.
Order details
| Test number | 8075 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CTSD |
| Mutation | C-T |
| Literature | OMIA:001505-9615 |
Neuronal Ceroid Lipofuszinosis CLN12 - Tibetan Terrier
The symptoms described in the breed Tibet Terrier can be found in the text above.
Order details
| Test number | 8075 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | ATP13A2 (CLN12) |
| Mutation | DEL |
| Literature | OMIA:001552-9615 |
Neuronal Ceroid Lipofuszinosis CLN5 - Border Collie
The symptoms described in the breed Border Collie can be found in the text above.
Order details
| Test number | 8075 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CLN5 |
| Mutation | C-T |
| Literature | OMIA:001482-9615 |
Neuronal Ceroid Lipofuszinosis CLN5 - Golden Retriever
The symptoms described in the breed Golden Retriever can be found in the text above.
Order details
| Test number | 8075 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CLN5 |
| Mutation | DEL |
| Literature | OMIA:001482-9615 |
Neuronal Ceroid Lipofuszinosis CLN7
The symptoms described in the breeds Chihuahua and Chinese Crested Dog can be found in the text above.
Order details
| Test number | 8075 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | MFSD8 (CLN7) |
| Mutation | DEL |
| Literature | OMIA:001962-9615 |
Neuronal Ceroid Lipofuszinosis CLN8 - Saluki
The symptoms described in the breed Saluki can be found in the text above.
Order details
| Test number | 8075 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CLN8 |
| Mutation | DUP |
| Literature | OMIA:001506-9615 |
Neuronal ceroid lipofuscinosis CLN8 - Setter
The symptoms described in the breeds English Setter and Gordon Setter can be found in the text above.
Order details
| Test number | 8075 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 7-14 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CLN8 |
| Mutation | T-C |
| Literature | OMIA:001506-9615 |
