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Neuronal Ceroid Lipofuscinosis 6 (NCL6) is a hereditary neurodegenerative lysosomal storage disorder caused by mutations in the ceroid‑lipofuscinosis neuronal 6 (CLN6) gene.
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Specifiche
| Razza | |
|---|---|
| Gene | |
| Cromosoma | 30 |
| Mutation | c.386T>C |
| Tipo di Ereditarietà | Autosomico Recessivo |
| Organo | |
| Campione | Tampone, Sangue in EDTA, Sangue in Eparina, Seme, Tessuto |
| Also known as | NCL6 |
Informazioni generali
Neuronal Ceroid Lipofuscinosis 6 (NCL6) is a hereditary neurodegenerative lysosomal storage disorder caused by mutations in the ceroid‑lipofuscinosis neuronal 6 (CLN6) gene. This defect leads to the build‑up of lipopigments, which are abnormal fatty waste substances that the body cannot break down properly. As these waste materials accumulate inside nerve cells, normal cell function becomes disrupted. Over time, neurons in the brain and retina degenerate, resulting in progressive neurological problems and loss of vision. In the Schapendoes, the condition is inherited in an autosomal recessive manner.
Caratteristiche cliniche
Affected dogs typically develop early‑onset, progressive neurological signs. These may include loss of vision, changes in behaviour, disorientation, and difficulty with coordination or balance. As the disease advances, dogs may display epileptic seizures, worsening motor dysfunction, and cognitive decline. Symptoms usually begin in young adulthood (1 year of age) and progress over time, ultimately leading to severe neurological impairment. NCL6 is a serious, progressive condition that significantly affects quality of life due to the combined impact of vision loss, motor deterioration, and neurological decline. For many dogs, the progression becomes severe enough that euthanasia is eventually considered the most humane option.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 38866396
Year published: 2024
Omia ID: 1443
Omia variant ID: 1702