Tag: atp1a3

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Skildi það vera Jólahjól?

AHC Samtökin gefa Klettaskóla svokallað Rickshaw hjól þar sem 2-3 krakkar geta farið saman út að hjóla.

Þörfin er mikil því mörg barnanna í Klettaskóla hafa ekki getu til að hjóla og verða því eftir þegar hin börnin fara í hjólatúr.

Hjólið er útbúið rafmagnsmótor og því auðavelt að hjóla á því þrátt fyrir að bera fjóra.

Það er von samtakanna að hjólið muni auka lífgæði barnanna í Klettaskóla um ókomna framtíð.

AHC samtökin vinna að lækningu fyrir taugasjúkdóminn Alternating Hemiplegia of Childhood (AHC). AHC sjúkdómurinn hefur verið nefndur móðir allra taugasjúkdóma því hann inniheldur öll einkenni allra annarra taugasjúkdóma.

Hann er einnig flóknasti taugasjúkdómur sem vitað er um og engin lyf til við honum. Lækning á AHC mun hjálpa öllum öðrum taugasjúkdómum og þess vegna áríðandi að finna lausn áhonum eins fljótt og auðið er.

AHC Samtökin munu halda ráðstefnu á Íslandi um genið ATP1A3 sem veldur sjúkdómnum.


Ráðstefnan verður haldin á Grand Hótel Reykjavik dagana 3-4 október 2019 og mun forseti Íslands opna ráðstefnuna og Kári Stefánsson mun vera með erindi. Tauglæknar og rannsakendur úr öllum heimsálfum munu sækja ráðstefnuna og er búist við um 150 sérfræðingum enda um mjög mikilvægt gen að ræða þar sem ATP1A3 stjórnar orkunni til heilans.

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6th Symposium ATP1A3 in Disease – Tokyo japan

From the Organising Committee of the 6th Symposium ATP1A3 in Disease:

Our special thanks to the Organising Committee of the 6th Symposium ATP1A3 in Disease, chaired by Dr Masayuki Sasaki, for making the 2017 annual meeting a great success. The Tokyo event was attended by over 107 people and included some excellent presentations with new research and unpublished data. Thanks very much for all contributions!

We are also very pleased to announce that the next Symposium on ATP1A3 in Disease will take place at the Northwestern University Medical Center, Chicago, Illinois USA on October 13th and 14th (Saturday to Sunday) 2018.

The Organising Committee includes Allison Brashear, MD (Wake Forest Medical Center), Al George, MD (Northwestern University Medical Center), Kevin Ess, MD, PhD (Vanderbilt University Medical Center), and the AHC Foundation.

Kind regards.
The ATP1A3 in Disease Symposia Standing Committee
email: 6th.symp.atp1a3@gmail.com
www.atp1a3disease.org

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Grants bolster research on rare neurological disorder AHC

Kevin Ess, M.D., Ph.D., Gerald M. Fenichel Professor of Neurology, has received two grants from the Alternating Hemiplegia of Childhood Foundation (AHCF).

Kevin C. Ess, MD,PhD
Neurology

Kevin Ess, M.D., Ph.D.
The grants will support efforts to understand cellular and molecular defects that contribute to AHC, a rare neurological disorder that causes repeated, sporadic attacks of hemiplegia — paralysis of part of the body. Patients with AHC often also suffer developmental delay, epilepsy and dystonia (abnormal muscle tone).

The hemiplegia attacks in AHC may cause mild weakness to complete paralysis on one or both sides of the body — sometimes alternating between sides — and they can vary in duration from minutes to hours to days. Patients are usually diagnosed before 18 months of age and may initially be misdiagnosed as having a seizure disorder instead of hemiplegia.

In up to 75 percent of patients, mutations in the gene ATP1A3 cause the disease. ATP1A3 encodes a protein component of the sodium/potassium ATPase — a molecular pump that moves sodium and potassium ions across the cell membrane and is responsible for establishing and maintaining the electrical gradients that are important for nerve and muscle excitability.

In a project that AHCF has continuously supported since 2012, Ess and close collaborator Alfred George, M.D., at Northwestern University, are studying human neurons generated from AHC patient-derived stem cells.

They are also using gene editing approaches to correct the ATP1A3 mutations in patient-derived cells. In addition, they are screening drugs and compounds for their ability to correct the defect in order to identify potential new treatments for AHC.

Ess also received AHCF funding for a second complementary project, in which his team is generating specific antibodies directed against the alpha3 and alpha2 subunits of the sodium/potassium ATPase. These antibodies will be highly useful tools for assessing levels of the specific subunits of the sodium/potassium ATPase.

They will be used not only in the human stem cell-based models, but also in mouse models of AHC that are being developed, Ess said.

“This should be an excellent investment that should continue to pay dividends far into the future,” Ess added.

Ess is the director of the Division of Pediatric Neurology and leads an AHC clinic at Monroe Carell Jr. Children’s Hospital at Vanderbilt.

Media Inquiries:
Leigh MacMillan, (615) 322-4747
leigh.macmillan@vanderbilt.edu

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The disease that is removed by dreams

A very good article from a Spanish website about AHC, here is a summary from the article:

„The triggers of attacks are diverse and unpredictable, they are often related to good times. Marta no longer wants to go to the carnival because the parade involves ending up paralysed.“

 

Ollie from Spain with her twin sister Charlotte

Ollie is a little girl with golden curls that her twin sister Charlotte calls Lele. When parents show Charlotte a video of Ollie eating a porridge her pupils begin to move, she smiles, shouts her name and goes to look for her in the crib where she sleeps.

Ollie is 21 months old and just diagnosed with AHC.
Ollie and the other 18 cases of Spain are loved.  Now they just need a cure to leave the pain and the paralysis behind.

„when Charlotte sees something happening with Ollie, she takes care of her, it’s a great encouragement because Ollie imitates her, chases her around the house and they both mess up,“ said her mother Bridget Vranckx.

Ollie and the other 18 cases of Spain have love. Now they just need a cure with which to leave the pain and the paralysis behind.

„Rachel’s attacks come with happy moments. Opening the birthday presents, going to the carnival or seeing the boy she likes becomes a torture.“

Human Timebombs, a documentary filmed to spread awareness of the disease that can be seen in the website www.humantimebombs.com

One of the main characters tells us about a particular event where his daughter forgot the word „dad“ after a bad crisis. It erased the word so that she could not say dad again until a year later.

In the film not only are the fears visualised: You can also see that the hope persists when the film ends.

In 2012, researchers, working closely with family associations, were able to discover that the mutation that causes Alternating Hemiplegia is found in the ATP1A3 gene and with sufficient funding, finding an effective treatment seems possible.

„The key is to find out how the function of the gene can be restored or at least to stabilize the pump so that patients can lead a life as normal as possible,“ says Dr. Carme Fons Estupinà, a neurologist who has investigated the syndrome in the Sant Joan de Dèu since 2006.

„In Spain, Ollie’s parents, the recent case diagnosed two months ago, drink from that yearning. Aware that no pharmaceutical company is betting on this syndrome, they joined the Spanish Association of Alternating Hemiplegia Syndrome headed by Rafi Muñoz and Pilar Tejero, the mothers of Raquel and Marta, to raise funds.

 

For the full article click HERE

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Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation

Orphanet Journal of Rare Diseases201611:55

Received: 21 September 2015 Accepted: 25 April 2016 Published: 4 May 2016

adenosine
Abstract

Background
Alternating hemiplegia of childhood is an intractable neurological disorder characterized by recurrent episodes of alternating hemiplegia accompanied by other paroxysmal symptoms. Recent research has identified mutations in the ATP1A3 gene as the underlying cause. Adenosine-5′-triphosphate has a vasodilatory effect, can enhance muscle strength and physical performance, and was hypothesized to improve the symptoms of paroxysmal hemiplegia.

Methods
A 7-year-old boy with alternating hemiplegia of childhood who was positive for a de novo ATP1A3 mutation was treated with adenosine- 5′- triphosphate supplementation orally as an innovative therapy for 2 years. Outcome was evaluated through the follow-up of improvement of hemiplegic episodes and psychomotor development. Side effects and safety were monitored in regularity.

 

Results
With the dosage of adenosine-5′-triphosphate administration increased, the patient showed significantly less frequency and shorter duration of hemiplegic episodes. Treatment with adenosine-5′-triphosphate was correlated with a marked amelioration of alternating hemiplegia of childhood episodes, and psychomotor development has improved. The maximum dose of oral administration of adenosine-5′-triphosphate reached 25 mg/kg per day. Adenosine-5′-triphosphate therapy was well tolerated without complaint of discomfort and side effects.

Conclusions
The 2-year follow-up outcome of adenosine-5′-triphosphate therapy for alternating hemiplegia of childhood was successful.

http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-0438-7