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Congenital Hypomyelinating Polyneuropathy (HPN) is an inherited neurological disorder that primarily affects the peripheral nervous system.
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Only available in bundles
Spesifikasjoner
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| specimen | Svaber, EDTA blod, heparinblod, sæd, vev |
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| Chromosome | |
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Generell informasjon
Congenital Hypomyelinating Polyneuropathy (HPN) is an inherited neurological disorder that primarily affects the peripheral nervous system. It is the canine variant of Charcot-Marie-Tooth Syndrome occurring in humans. It is characterized by abnormal development or insufficient formation of myelin sheet, which is a protective covering around nerve fibers. Myelin is essential for the proper transmission of nerve signals, and without it, nerve function is impaired.
In Golden Retrievers there are currently three mutations found in different genes that cause HPN. The mutations that are tested for is found in the myelin protein zero (MPZ) gene, located in exon 3, which is inherited in an autosomal dominant way.
The other variants involve mutations in the myotubulin-related protein 2 (MTMR2) gene and the SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene. These variants are analysed in different tests.
Kliniske egenskaper
All three mutations (MTMR2, MPZ, SH3TC2) lead to similar symptoms: muscle weakness, ataxia, tremors, hypotonia (low muscle tone), and delayed motor development. The severity and progression of these symptoms can vary. For example, MPZ mutations may lead to more severe muscle wasting or atrophy over time, while SH3TC2 and MTMR2 mutations tend to primarily cause weakness and coordination problems without significant muscle wasting.
Dogs with MPZ mutation typically show clinical signs early in life, often between 3 to 6 months of age. However, signs can sometimes be detected in younger puppies, particularly if the symptoms are more severe.
Tilleggsinformasjon
Referanser
Pubmed ID: 37400349
Omia ID: 2739