Lafora disease (EDTA blood only)

LABOKLIN Service ID: 8005

Lafora disease is an autosomal recessive inherited glygogen metabolism disorder that causes progressive myoclonic epilepsy. A mutation in the NHLRC1 gene (also called EPM2B) leads to an transformation of soluble glycogen to an insoluble polyglucosan that aggregates in neurotoxic inclusions, called Lafora bodies. The Lafora bodies (LBs) accumulate in the neuronal somatodendritic compartements of the  brain but could also be found in other organs such as muscle, heart, skin and liver. The symptoms of this disease are: poor vision/blindness, generalized tonic clonic seizures, myoclonic jerks (often induced by light, sound or sudden movements in the visual field), panic attacks, dementia, aggression as well as fecal and urinary incontinence as a result of loss of house training. The average onset of first symptoms is reported at 7 years. Since it is a progressive disease, the frequency and the severity of the seizures increase. At the moment, the genetic test for Lafora disease could be carried out on a blood sample (no buccal swabs) for the breeds Dachshund and Beagle.

Material	EDTA blood 0,5 - 1 ml (no cheek swabs!)
Method	special: FLP
Breed list	Basset Hound, Beagle, Cardigan Welsh Corgi, Chihuahua, Dachshund (Dackel), French Bulldog, Long-Haired Dachshund, Newfoundland, Pembroke Welsh Corgi, Short-Haired Dachshund, Welsh Corgi (Cardigan/Pembroke), Wire-Haired Dachshund
Heredity	autosomal recessive
Duration	2 - 3 weeks after arrival of the sample in the lab