Lissencephaly and cerebellar hypoplasia, RELN-related(LCH)
Also known as: Lissencephaly and cerebellar hypoplasia · RELN-related lissencephaly · Lissenzephalie und Kleinhirnhypoplasie · Smooth brain syndrome
Overview
What it is
This is a severe, inherited brain disorder primarily documented in White Swiss Shepherd Dogs, where the brain does not develop normally. A mutation in the RELN gene causes lissencephaly, which means the surface of the brain remains smooth instead of forming normal folds, and cerebellar hypoplasia, which is an underdeveloped cerebellum (the part of the brain controlling movement). This combination severely disrupts the dog's nervous system and coordination.
How it presents
Affected puppies typically show noticeable symptoms within their first few weeks of life. Owners will observe severe coordination issues, tremors, seizures, developmental delays, and visual impairment.
Treatment
This condition is incurable and cannot be treated. Supportive care or diagnostic confirmation typically costs between 300 and 1500 EUR, but due to the severe impact on the puppy's quality of life, humane euthanasia is usually recommended.
How it's tested
Lissencephaly and cerebellar hypoplasia (RELN) DNA-Test(LCH)
Primary testDNA testDer DNA-Test identifiziert die ursächliche Mutation im RELN-Gen, welche für die Fehlbildung des Gehirns (Lissenzephalie und Kleinhirnhypoplasie) verantwortlich ist.
Issuing body: Labogen
Result scheme: Clear/Carrier/Affected
Affected breeds
Treatment cost
Estimated range of typical treatment cost. Actual cost depends on severity, clinic and region.
Frequently asked
What is Lissencephaly and cerebellar hypoplasia, RELN-related?
This is a severe, inherited brain disorder primarily documented in White Swiss Shepherd Dogs, where the brain does not develop normally. A mutation in the RELN gene causes lissencephaly, which means the surface of the brain remains smooth instead of forming normal folds, and cerebellar hypoplasia, which is an underdeveloped cerebellum (the part of the brain controlling movement). This combination severely disrupts the dog's nervous system and coordination.
How is Lissencephaly and cerebellar hypoplasia, RELN-related tested?
Tests currently in our database: Lissencephaly and cerebellar hypoplasia (RELN) DNA-Test.
Which breeds are most affected?
This condition isn't tied to a specific breed in our database.