Adult Epilepsy & Cerebellar Ataxia
Cerebellar ataxia or abiotrophy has recently been identified, and research continues.
Professor Hannes Lohi at the University of Helsinki, heading an international team of scientists, explains:.
"The study revealed another form of epilepsy in the breed, unconnected with the BFJE mutation and with an age of onset in adulthood. In addition, the breed has a progressive juvenile ataxia (lack of motor coordination) with similar onset and symptoms to juvenile epilepsy except that it does not remit -- ataxic puppies have to be euthanized usually by the first year of life. More samples are needed for both adult-onset epilepsy and ataxia to enable us to investigate their genetics further," says a primary author of the study, Eija Seppälä, PhD
Further informationa from Eija Seppala (Researcher and Geneticist, University of Helsinki)
Cerebellar Abiotrophy (CA) in Lagotto Romagnolos is studied in collaboration with University of Helsinki Prrofessor Hannes Lohi's group) and University of Bern (Professor Tosso Leeb's group).
We have confirmed pathologically CA both in juvenile onset and adult onset types in Lagottos. There are several reports about adult and juvenile onset abiotrophy in various breeds but it has never been published both types in the same breed. There are also differences in what cerebellar cortical cell layer is affected (mainly Purkinje cells, mainly granular cells or both). So far we do not know are the juvenile and adult onset abiotrophies genetically related or are they completely
different diseases in Lagotto Romagnolos. The main symptom of cerebellar abiotrophy is ataxia, but ataxia can also be caused by other diseases or intoxication.
Basically, as there is degeneration of cerebellar cortical cells in abiotrophy, full recovery is not possible but typical course for the cerebellar abiotrophy is either slowly or rapidly progressive. Other cerebellar diseases can be mixed with this condition and that's why it is always very important to get histopathological confirmation for the disease.
For us researchers the most valuable samples are blood for DNA extraction and also histopathological brain samples (as this condition can only be confirmed histopathologically). The complete diagnosis of cerebellar abiotrophy requires both neurologist and pathologist. There are skilful persons both in University of Helsinki and University of Bern who can help and contact veterinarians/neurologists/pathologists in other countries as well. The population of Lagottos is small worldwide, so every confirmed case is very valuable for the research. In addition, blood samples from healthy relatives are collected both in Bern and in Helsinki. The pedigree information is also important; the researchers need to know how dogs who participate to the study are related to each other.
So far the number of samples with histopathologically confirmed CA diagnosis is small, but we have started to search for the gene(s) causing CA. The research is ongoing and no preliminary results exists yet.
Instructions for sample submission and participation can be asked from:
Eija Seppala (Geneticist, University of Helsinki) at eija.seppala@helsinki.fi
or Professor Tosso Leeb (Professor, University of Bern) at tosso.leeb@vetsuisse.unibe.ch
More information is available at Koirangeenit
Further information about Cerebellar Abiotrophy is available at vetinfo.com.
Cerebellar ataxia or abiotrophy has recently been identified, and research continues.
Professor Hannes Lohi at the University of Helsinki, heading an international team of scientists, explains:.
"The study revealed another form of epilepsy in the breed, unconnected with the BFJE mutation and with an age of onset in adulthood. In addition, the breed has a progressive juvenile ataxia (lack of motor coordination) with similar onset and symptoms to juvenile epilepsy except that it does not remit -- ataxic puppies have to be euthanized usually by the first year of life. More samples are needed for both adult-onset epilepsy and ataxia to enable us to investigate their genetics further," says a primary author of the study, Eija Seppälä, PhD
Further informationa from Eija Seppala (Researcher and Geneticist, University of Helsinki)
Cerebellar Abiotrophy (CA) in Lagotto Romagnolos is studied in collaboration with University of Helsinki Prrofessor Hannes Lohi's group) and University of Bern (Professor Tosso Leeb's group).
We have confirmed pathologically CA both in juvenile onset and adult onset types in Lagottos. There are several reports about adult and juvenile onset abiotrophy in various breeds but it has never been published both types in the same breed. There are also differences in what cerebellar cortical cell layer is affected (mainly Purkinje cells, mainly granular cells or both). So far we do not know are the juvenile and adult onset abiotrophies genetically related or are they completely
different diseases in Lagotto Romagnolos. The main symptom of cerebellar abiotrophy is ataxia, but ataxia can also be caused by other diseases or intoxication.
Basically, as there is degeneration of cerebellar cortical cells in abiotrophy, full recovery is not possible but typical course for the cerebellar abiotrophy is either slowly or rapidly progressive. Other cerebellar diseases can be mixed with this condition and that's why it is always very important to get histopathological confirmation for the disease.
For us researchers the most valuable samples are blood for DNA extraction and also histopathological brain samples (as this condition can only be confirmed histopathologically). The complete diagnosis of cerebellar abiotrophy requires both neurologist and pathologist. There are skilful persons both in University of Helsinki and University of Bern who can help and contact veterinarians/neurologists/pathologists in other countries as well. The population of Lagottos is small worldwide, so every confirmed case is very valuable for the research. In addition, blood samples from healthy relatives are collected both in Bern and in Helsinki. The pedigree information is also important; the researchers need to know how dogs who participate to the study are related to each other.
So far the number of samples with histopathologically confirmed CA diagnosis is small, but we have started to search for the gene(s) causing CA. The research is ongoing and no preliminary results exists yet.
Instructions for sample submission and participation can be asked from:
Eija Seppala (Geneticist, University of Helsinki) at eija.seppala@helsinki.fi
or Professor Tosso Leeb (Professor, University of Bern) at tosso.leeb@vetsuisse.unibe.ch
More information is available at Koirangeenit
Further information about Cerebellar Abiotrophy is available at vetinfo.com.
