Neuronal ceroid lipofuscinosis (NCL) – Australian Shepherd, Australian Cattle Dog, Miniature American Shephed, Dachshund
Neuronal ceroid lipofuscinosis (NCL) - Australian Shepherd, Australian Cattle Dog, Miniature American Shephed, Dackel
General description
Neuronal ceroid lipofuscinosis (NCL) is a neurodegenerative disorder caused by lysosomal storage defects. Clinical signs include increased restlessness and aggression. Affected dogs may become hyperactive and experience epileptic seizures. The age of onset and the severity of the disease can vary considerably.
Breeds
Australian Cattle Dog, Australian Shepherd, Dachshund (Dackel), Long-Haired Dachshund, Miniature American Shepherd, Short-Haired Dachshund, Wire-Haired Dachshund
Detailed description
Neuronal ceroid lipofuscinosis (NCL) is an inherited metabolic disorder (lysosomal storage disease) that leads to progressive degeneration of nerve cells (neurodegenerative disease). Clinical signs include behavioural changes such as restlessness, aggression and anxiety. Affected dogs may also experience epileptic seizures and visual impairment. Most animals eventually lose the ability to coordinate everyday muscular activities such as eating and walking. The age of onset and the severity of the disease can vary considerably. However, as the disease progresses, all affected dogs develop behavioural abnormalities and impaired coordination of movement (ataxia).
Neuronal Ceroid Lipofuszinosis CLN6
The symptoms described in the breeds Australian Shepherd and Miniature American Shepherd breed can be found in the text above.
Order details
| Test number | 8133 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CLN6 |
| Mutation | A-G |
| Literature | OMIA:001443-9615 |
Neuronal Ceroid Lipofuszinosis CLN8
The symptoms described in the breeds Australian Shepherd and Miniature American Shepherd breed can be found in the text above.
Order details
| Test number | 8133 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Causality | causally |
| Gene | CLN8 |
| Mutation | G-A |
| Literature | OMIA:001443-9615 |
Neuronal Ceroid Lipofuszinosis CLN1 - Dachshund (Dackel)
The symptoms described in the breed Dachshund can be found in the text above.
Order details
| Test number | 8133 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Gene | PPT1 (CLN1) |
| Mutation | INS |
| Literature | OMIA:001504-9615 |
Neuronal Ceroid Lipofuszinosis CLN12 - Australian Cattle Dog
The symptoms described in the breed Australian Cattle Dog can be found in the text above.
Order details
| Test number | 8133 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Gene | ATP13A2 (CLN12) |
| Mutation | A-G |
| Literature | OMIA:001552-9615 |
Neuronal Ceroid Lipofuszinosis CLN2
The symptoms described in the breed Dachshund can be found in the text above.
Order details
| Test number | 8133 |
| Sample material | 0.5 ml EDTA blood, 2x cheek swab, 1x special swab (eNAT) |
| Test duration | 3-5 working days |
Test specifications
| Symptom complex | neurological |
| Inheritance | autosomal recessive |
| Gene | TPP1 (CLN2) |
| Mutation | DEL |
| Literature | OMIA:001472-9615 |
