Neurodegenerative Vacuolar Storage Disease
New storage disease test for Lagottos NOW AVAILABLE (February 2015)
Dr Lohi' and Dr Leeb's research groups in the Univ of Helsinki and Univ of Bern have made a breakthrough in a novel neurological condition in Lagotto romagnolo breed and have discovered a new disease-causing mutation. The discovery is being prepared for a scientific publication.
The free storage disease testing that was offered by the Dog Genetics Research Group at the University of Helsinki has now been discontinued. As an exception, samples are still being collected from Lagottos who are suspected of suffering from storage disease, and also samples from parents and healthy littermates of confirmed affected dogs. In this case, please contact the research group.
We want to thank all who have sent in samples and participated in the research.
Best regards
The Dog Genetics Research Group.
The free storage disease testing that was offered by the Dog Genetics Research Group at the University of Helsinki has now been discontinued. As an exception, samples are still being collected from Lagottos who are suspected of suffering from storage disease, and also samples from parents and healthy littermates of confirmed affected dogs. In this case, please contact the research group.
We want to thank all who have sent in samples and participated in the research.
Best regards
The Dog Genetics Research Group.
Storage Disease in Lagotto Romagnolo - the result of genetic research (January 2014)
The information given here has been taken from data supplied to the owners of dogs tested for this condition by the Dog Genetics Research Group, University of Helsinki - January 2014.
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Recently, a new neurodegenerative storage disorder was identified in the Lagotto Romagnolo breed. The genetic background of the disease has been studied as a collaboration between the University of Helsinki and the University of Bem, Switzerland. A likely disease-causing mutation has now been found. Altogether 1300 Lagottos have been tested (using samples supplied for other purposes) as a part of the research. Out of all the tested dogs, 11% were carriers of the recessive mutation and 1% were affected.
The Lagotto Romagnolo storage disorder is characterized by movement in-coordination, which is seen as a staggering, uncoordinated gait. Some affected dogs also suffered from involuntary eye movements (nystagmus) and behavioral changes, such as aggression. The onset of symptoms has varied from 4 months to 4 years. The condition is progressive and affected dogs deteriorate to the point where they need to be euthanized. On the pathological level, storage material accumulates to the affected dogs’ cerebellar neurons and other cells, causing dysfunction and cell death.
The results of our genetic study indicate that the Lagotto storage disorder is inherited through a single gene, in an autosomal recessive manner. In recessive disorders, affected dogs have to inherit two copies of a disease-causing gene mutation. Those Lagotti that have a NORMAL result have inherited two normal copies of the disease gene; they do not pass the mutation down to their offspring. CARRIER dogs have inherited one normal copy and one with the mutation. Their risk of being affected is minimal but they pass the mutation down to approximately half of their offspring. If a carrier dog is used for breeding, it should be mated with a dog that has been tested as normal. In carrier/carrier -matings, the resulting offspring can be either affected, carrier or normal, whereas in carrier/normal —matings, only carrier or normal dogs are born. AFFECTED dogs have inherited the mutation from both parents, and so they have two copies of the mutation. Their risk of developing the disease is very high.
In addition to the storage disorder, progressive cerebellar abiotrophy (CA) has been reported to occur in the Lagotto Romagnolo breed. The clinical signs and age of onset a similar between the different disorders, and therefore it is not possible to make a diagnosis based just on the dog’s symptoms. The genetic cause of the cerebellar abiotrophy has not been identified yet but ongoing research is aiming to shed light to this.
The results of the storage disease study will be published in a scientific article, and commercial test laboratories will then be able to offer a gene test in the future.
Thanks to Edith Van Der Kuiji for the YouTube link which shows a bitch with Cerebellar Ataxia but gives an idea of the characteristic staggering gait, http://www.youtube.com/watch?v=brg5dlV9Ej4
The Lagotto Romagnolo storage disorder is characterized by movement in-coordination, which is seen as a staggering, uncoordinated gait. Some affected dogs also suffered from involuntary eye movements (nystagmus) and behavioral changes, such as aggression. The onset of symptoms has varied from 4 months to 4 years. The condition is progressive and affected dogs deteriorate to the point where they need to be euthanized. On the pathological level, storage material accumulates to the affected dogs’ cerebellar neurons and other cells, causing dysfunction and cell death.
The results of our genetic study indicate that the Lagotto storage disorder is inherited through a single gene, in an autosomal recessive manner. In recessive disorders, affected dogs have to inherit two copies of a disease-causing gene mutation. Those Lagotti that have a NORMAL result have inherited two normal copies of the disease gene; they do not pass the mutation down to their offspring. CARRIER dogs have inherited one normal copy and one with the mutation. Their risk of being affected is minimal but they pass the mutation down to approximately half of their offspring. If a carrier dog is used for breeding, it should be mated with a dog that has been tested as normal. In carrier/carrier -matings, the resulting offspring can be either affected, carrier or normal, whereas in carrier/normal —matings, only carrier or normal dogs are born. AFFECTED dogs have inherited the mutation from both parents, and so they have two copies of the mutation. Their risk of developing the disease is very high.
In addition to the storage disorder, progressive cerebellar abiotrophy (CA) has been reported to occur in the Lagotto Romagnolo breed. The clinical signs and age of onset a similar between the different disorders, and therefore it is not possible to make a diagnosis based just on the dog’s symptoms. The genetic cause of the cerebellar abiotrophy has not been identified yet but ongoing research is aiming to shed light to this.
The results of the storage disease study will be published in a scientific article, and commercial test laboratories will then be able to offer a gene test in the future.
Thanks to Edith Van Der Kuiji for the YouTube link which shows a bitch with Cerebellar Ataxia but gives an idea of the characteristic staggering gait, http://www.youtube.com/watch?v=brg5dlV9Ej4
We also have three stories from a breeder - Kiia Montonen (Finland) - who has had two confirmed cases in recent litters for Storage Disease (Remu and Tahvo) and a puppy (Vilma) from an earlier litter (2002) who was confirmed as having Cerebellar Abiotrophy ... read her and the dog's owners stories here ...