Neurodegenerative storage disorder in Lagotto Romagnolos
Project description
We have recognized a neurodegenerative storage disorder in the Lagotto Romagnolo breed. The disease has been studied in collaboration with the research group of Professor Tosso Leeb at the University of Bern. The main clinical symptoms in affected Lagottos are related to cerebellar dysfunction, and include difficulties in controlling movements and balance. Some affected dogs have also suffered from abnormal eye movements (nystagmus) and behavioural changes, such as aggression and restlessness. The owner-reported age of onset has varied from 4 months to 4 years. Although the symptoms can progress quickly, some affected dogs can live with the disease for several years. At the histological level, cellular changes are seen in the cerebellum but also in other parts of the central nervous system and in other organs.
We have recently identified a disease-associated autosomal recessive gene mutation in affected Lagottos, and these findings have been published in a scientific article. The gene test is currently offered by commercial laboratories.
As a part of the genetic study, over 2000 Lagottos were tested regarding the identified mutation.
Studied breeds
Lagotto Romagnolo
We are interested in collecting samples also from other breeds where storage disease may occur. Please contact the research group if storage disease cases are suspected in your breed.
Which samples are needed
Currently, the research aims to characterize the disease-causing mechanism in more detail and if you have a Lagotto that is suffering from neurological symptoms, please contact the research group.
We want to note that the symptoms of the storage disease can overlap with other neurological diseases. In addition to the storage disease, cerebellar cortical abiotrophy (CA) has been described in Lagotto Romagnolos. However, a pathological examination is needed to make a distinction between the two diseases. We are also very interesting in collecting samples from Lagottos with cerebellar abiotrophy. In addition, adult-onset epilepsy samples are being collected from Lagottos for epilepsy research.
Copies of diagnoses and other information needed
We would like to know the dogs’ case history; what are the symptoms, age of onset etc. If neurological examinations have been performed we would like to hear the results. You can also send us video clips from dogs with a suspected neurological disease. We would also like to have pedigree information from the affected dogs.
Links
Contact us
Marjo Hytönen, marjo.hytonen(at)helsinki.fi.
Tarja Pääkkönen, veterinary neurologist, Veterinary Teaching Hospital, tarja.jokinen@helsinki.fi