In the opening of the workshop the word collaboration was often mentioned, collaboration between scientists and collaboration of nations which was very appropriate since that is what the presidents of the AHC associations have been talking about this last year. We have to combine our efforts
These are the minutes of the workshop from my perspective:
First up was Prof. Brian Neville.
Brian began by telling us that he has no new information on AHC. He then described how AHC changes with time that 50% of the time AHC patients also have epilepsy which is not easy to control. Also that the motor and mental delay are permanent. The caring of AHC patients in the community is difficult because of the variably of the condition.
He has seen more arguments between parents of AH children and doctors in this disease than in any other probably because each doctors usually has only 1 patient and the parents usually know better than the doctor, there is also the risk of over protection by the parents which is understandable.
It was apparent that the information that Neville was using is old, new studies are important so that we are not always looking at the same old data, for instance that the children are undernourished and small, when I talk to parents this is not always the case, for instance my daughter, Sunna is tall and heavy for her age, taller and heavier than most her own age and the same goes for Katelyn from Ireland.
Perhaps possible to find a drug solution for AHC through other channel related symptoms.
Presentation by Dr. Giannotta.
Several studies have been done but no concrete evidence of the origin of the disease. It is now believed by some that this may be a genetic disorder
There is at least one case of AHC half siblings so that if AHC is of genetic origin then perhaps only one parents gene is needed
GLUT -1 deficiency negative (French study)
AHC is still an disease of unknown origin
Brainstem and basal ganglia have a crucial role in the patophysiology
of the disease.
Prof. Gurrieri (Geneticist)
First met with AISEA in 2004
Collection of data took many years. Conclusions that we can try to draw:
No single characteristics.
Possibly more than 1 gene involved.
Study of the exome just accounts for 2% of all the genome. Exome study was started in November last year , data of 6 patients was chosen that had the most similarity and then the samples where sent to laboratories for exome sequence. Preliminary results show many mutation but every person has mutations, usually without many problems. No shared mutation found yet between these 6 patients. Next step is to screen and validate the genes, this takes about 60 days and this work is in process. This is just the start. Families have to know that gene research is a long process.
The research is funded by AISEA.
There were talks about other species with similar disorder and someone told us about goats that paralyzed without notice and then could walk again later. Can be seen on http://www.youtube.com/watch?v=3zqESjVkohw
Mice and men have similar gene structure so perhaps we could use mice for experiments when a gene mutation is found?
Told us about Alternating Hemiplegia in general, showed a video of a 8 year old girl in episodes. Usually the patients turn their head in the direction of the paralyzed side. The triggers are many and vary between patients. 15 minutes sleep can be enough so that the patient can resume movements in the limbs.
The trigger that has to do with the touch of water is debatable, is it the excitement, the heat difference or the touch itself (feeling) that trigger the episode?
Other disorders that improve with sleep? Huntington, Migraine, and most movement disorders improve with sleep. And in almost all cases the movement is normal while the patient is sleeping.
Why does Nystagmus reduce or stop with age? Not known, has to do with the brainstem
Dr. G. Gobbi
Non paroxysmal events
Are there 3 phases of AHC or perhaps only 2?
From the age of 1-7 there are frequent episodes with hemi but after 7 usually less episodes but more dystonia and other disorders.
It is common for AHC patients to be aggressive and have low self esteem.
Dr. Elisa De Grandis
To diagnose AHC you have to eliminate everything else.. She spoke about various researches but no new ones. Flunarizine is the drug of choice but is only helpful in 50% of patients.
For how long does the Flunarizine work? A doctor said that he had lowered to dosage for a 15 year old patients and that he got much worse. With many patients the drug seems to work less after a few years of treatment but if they are taken of the drug they get worse.
Dr. Rotstein asked if other dopamine drugs have been tried?
Many drugs have been but the results vary, some work but others do not for instance 5HDP has been tried for one patient that has been documented and it worked for that patient so it works 100% !!
The second drug of choice is Benzodiazipam
Rosaria Vavasorri – President of AISEA
Spoke about Enrah and the nEUroped project that will be finished by the end of the year. The aim of the nEUoped project was among other things to have information on all patients with AHC on a European scale. It looks like the project will not be successful although shortage of funding was not the problem.
Dr. Neville is the president of Enrah and Rosaria is the vice president, Rosaria needs to retire this job since she has to focus on other projects.
Rosaria showed us how to input information into the biobank and the Quality of life study
Dr. Michael Rotstein
Glut1 deficiency vs Alternating Hemiplegia
If glucose is not transported to the brain with Glut1 then the brain has no energy to work. This disorder can be cured with ketogenic diet which gives the brain energy through other sources.
Glut1 deficiency has most of the same symptoms as AHC, CSF glucose screening should always be performed before patient is diagnosed with AHC.
Dr. Rotstein´s presentation was excellent and I had no problem following the presentation since he spoke in layman’s terms unlike some other presentations that were given this day.
Other interesting topics:
There was a presentation of 11 an year old boy that has epilepsy seizures in his sleep, up to 160 per night. He can not walk and is a severe case of AHC.
The White book on AHC was presented and the “Guidelines on AHC” that has to be updated, preferably every year.
In Italy there are officially 500 rare diseases but the list of rare diseases was made in 2001 and has not been updated so AHC is not among these 500 rare diseases in Italy.
AISEA has a Facebook group and they have finished an advertise that will be run in Italian television. The ad can be found here: http://www.youtube.com/watch?v=CUklHrwHxhM
AHC is not considered to be one disorder but rather a combination of many disorders so that there might and is perhaps likely that we will find more than 1 mutation in the genes that contribute to AHC.
Perhaps the biggest news for the associations is that a handful of geneticists had a meeting in Genoa and decided to collaborate in their efforts on trying to find the mutated gene/genes that is the source of Alternating Hemiplegia and this is very good news indeedJ
The Italian association is like one big happy family, very inviting and cheerful but some of the families are not fluent in English and that makes it hard for us foreigners to have a conversation with them as much as we would like to, I think it´s time to learn Italian……
It was so nice to see the AH children enjoying the time together, hugging and kissing each other even at the breakfast tableJ
The workshop had professors, doctors, geneticists and other specialists from all over the world and patient representatives from: Italy, Spain, Germany, France, Ireland and Iceland
All in all a very fruitful meeting and very well organized, Once again I take my had off for the Italian association, AISEA.
Pictures from the workshop and Genoa
Sigurdur Hólmar Jóhannesson