International AHC day 18th of January 2017

Today we celebrate international AHC day all over the world. Alternating Hemiplegia of Childhood is a rare neurological disorder. In 1971 the first article about AHC by Verret and Steele was published. In 1993 only 30 AHC patients had been discovered but today about 850 patients have been diagnosed and that number is crowing fast.

On 18th of January 2012 scientists at Duke University discovered the gene mutation that causes AHC in the gene ATP1A3.
Duke
Therefore the AHC International Alliance decided to name this day INTERNATIONAL AHC DAY.
Now about 80% of AHC patients have a confirmation of mutation in this gene.

AHC is often referred to as the most complex neurological disorder know to man because the AHC champions that fight this disorder have all the symptoms of all other neurological diseases.
It should be extremely challenging and exciting for researchers to study this disease because other much more common diseases like Parkinson´s could benefit from those research.

What holds back research is funding, pharmaceutical companies have no interest in researching AHC because there is not much profit to be made from such a small number of patients.

AHC champions suffer episodes of paralysis that can last from minutes up to weeks. They are mentally challenged, most have Dystonia, Nystagmus, ADHD, autism, have difficulty walking and controlling fine movements. On top of everything about 60-70% of our AHC champions also have epilepsy seizures.
Like you can imagine after reading about all these symptoms our kids need care 24/7 and that puts a lot of strain on the families.

Screen Shot 2017-01-17 at 19.54.24

Today on International AHC Day we will be opening a new website www.humantimebombs.com where you can watch the documentary about AHC in 10 languages. This documentary has been shown in many countries and has received fantastic reviews from both parents and professionals.

Human Timebombs took 2.5 years in the making and is the foster child of filmmaker Agusta Fanney Snorradóttir and producer Sigurdur Holmar Johannesson.

The film explains AHC in a simple manner as well as shining a light on the difficulties rare diseases face in the world.

1233201_10151611276506691_832816046_o
Agusta Fanney

I encourage you to watch the film, its 40 minutes well spent.

Happy international AHC Day 🙂

Sunna Valdís Sigurðardótir, Ragnheiður Erla Hjaltadóttir, Sigurður Hólm Jóhannesson,

 

 

 

 

 

 

 

Sigurdur Holmar Johannesson
President
AHC Federation of Europe

Sandra Vela from Spain passed away

In the early morning of August 10th Sandra Vela passed away.
Sandra was diagnosed with AHC and was 29 years of age.
Sandra Vela
The disease had been getting worse according to the Spanish AHC association the days before and she passed without a known cause.

The AHC Federation of Europe sends it´s deepest condolences to the family and loved ones in these days of sorrow.

Lone_cross_by_KayDat

ATP1A3 disease Symposium 2016

Screen Shot 2016-08-24 at 21.54.47

5TH SYMPOSIUM ON ATP1A3 IN DISEASE
UCL Institute of Neurology, Queen Square 33, London, United Kingdom
24th-26th August 2016

PROGRAM

Wednesday, 24th August, 2016
19.00 P.M. – 22.00 P.M. Welcome to London
The Holiday Inn Bloomsbury, 1st Floor Reception Area
Time Agenda
19:00-21:30 Registration & Buffet
19:45 Welcome Speech – AHCUK
19:50 Opening Message – Sanjay Sisodiya, Chair 5th Symposium
20:00 Victoria A. Platt – Secretary AHC Foundation, USA
A presentation of the topics and discussions raised at the July 2016 AHCF Family Meeting in Indianapolis, Indiana, USA
20:15 Sigurdur Holmar Jóhannesson – President, AHC Federation of Europe. AHC today and in the future.
20:30-22:00 Interaction and discussions with AHC Family Associations

Thursday, 25 August 2016
Morning session: Clinical developments in ATP1A3-related disease
Chairs: Helen Cross, GOSH, London &Mohamad Mikati, Duke, USA
09:00 Allison Brashear,
Wake Forest School of Medicine, USA
&
Kathleen Sweadner,
Massachusetts General Hospital and Harvard Medical School, USA

Plenary Introduction: Where we are in ATP1A3-related disease today?
09:45 Diane Doummar, Hospital Armand Trousseau, Paris, France Encephalopathies associated with ATP1A3 mutation
10:00 Hendrik Rosewich,
Medical University Göttingen, Germany CAPOS
10:15 Madeleine Scharf,
Inst. of Experimental Immunology, Lübeck, Germany Neuronal Na+/K+ ATPase as an autoantibody target in paraneoplastic neurologic syndrome
10.30 Coffee Break
11:00 What are the clinical events in ATP1A3-related disease?
Chairs: Hendrik Rosewich, Medical University Göttingen, Germany and Sanjay Sisodiya, UCL, London

A video and clinical panel session to discuss events that are seizures confirmed on EEG recording, those that are hemiplegic episodes and that are undiagnosed.

• Facilitators:
murine experts (Steve Clapcote, Leeds, UK; Karin Lykke-Hartmann, Aarhus University, Denmark, Mohamad Mikati, Duke, USA), human epilepsy (Mohamad Mikati, Duke, USA; Helen Cross, GOSH, London; Beate Diehl, UCLH, UK; Alexis Arzimanoglou, Lyon, France), human movement disorders (Kailash Bhatia, UCL and Lucinda Carr, GOSH, London).

• Intended outcome:
consensus definitions of events in AHC, key for therapy trials.

12:30
Lunch and Poster Session
Foyer of the UCL Institute of Neurology

Afternoon session Research developments in ATP1A3-related disease
Chairs: Erin Heinzen, Columbia University, USA and Steve Clapcote, Leeds University, UK
14:30 Arn van den Maagdenberg, LUMC
The Netherlands AHC Gene 2 – an update
14:50 Jennifer Kearney,
Northwestern University, USA Genetic modifiers for ATP1A3
15:10 Karin Lykke-Hartmann , Aarhus University, Denmark Further analysis of the Atp1a3 D801Y knock-in mouse model
15:30 Bente Vilsen
Aarhus University,
Denmark ATP1A3 neurological disease mutations affecting Na+-site III: Structural and functional perspectives and rescue of compromised function
15:50 Discussion
16.00 Coffee Break
16.30 Hugh Piggins, The University of Manchester, UK Circadian Disruption in the Myshkin Mouse Model of Mania Independent of Deficits in Molecular Clock Function
16:50 Minako Hoshi, Kyoto University, Japan ATP1A3 as target of beta-amyloid assembly
17.10 Ronald Melki, CNRS Paris, France α-synuclein interaction with α3-Na+/K+-ATPase and relation to decline?
17.30 Jan Koenderink, Radboud UMC,
The Netherlands Biochemical and electrophysiological analysis of ATP1A3 mutations
17:50 Discussion
18:00 End of Day 1 Program
19.00 Conference Dinner and Election of Standing Committee for the ATP1A3 disease Symposium
Holiday Inn London Bloomsbury, Turner Suite

Friday, 26 August 2016
Morning session: Translation to Treatments in ATP1A3-related disease
Chairs Sanjay Sisodiya, UCL, UK and Tsveta Schyns, ENRAH, Belgium
09:00 Francesco Muntoni,
GOSH, London, UK Plenary Introduction:
Gene therapy in a neurological disease, the journey: Duchenne Muscular Dystrophy
09:45 Natalya Fedosova, Aarhus University, Denmark On the way to isoform – specific drugs
10:00 Steve Clapcote, Leeds University, UK Update on the Myshkin mouse model of AHC

10:15 Emmanuel Roze, Paris, France Sharing the experience of a clinical trial in alternating hemiplegia
10:30 Coffee break
11:00 Helen Cross, GOSH London, UK The role of dietary therapy in AHC
11:15 Elisa de Grandis, University of Genoa, Italy Flunarazine and AEDs – where are we now?
11:45 Juan Kaski, GOSH, London, UK Cardiac involvement in AHC: treatment beyond the brain?
12:15 Poster Bursary Award Winner
Christine Simmons,
Northwestern University, USA AHC Patient-specific iPSC-derived Neurons Exhibit Depolarized Resting Membrane Potential and Altered Excitability
CONCLUSIONS, LUNCH AND END OF MEETING

Human Timebombs in Neuro Film Festival

The Neuro Film Festival is an online video contest that aims to raise awareness about the need for why more funding is needed for research into the prevention, treatment, and cure of brain disease.

Neuro film fest

Participants are encouraged to share their story about the impacts of brain disease, such as Alzheimer’s disease, stroke, brain injury, ALS, epilepsy, Parkinson’s disease, multiple sclerosis, and others. These stories inspire others and educate people about the need for more brain disease research.

 

Human Timebombs is in the contest and to vote for it please visit NEURO FILM FESTIVAL choose CAST YOUR VOTE – Create and account – find the confirmation email in your inbox – Confirm and vote for HUMAN TIMEBOMBS

HUMAN TIMEBOMBS previewed in Washington, DC

At the ATP1A3 Symposium in Washington there were  two previews of the AHC documentary “Human Timebombs”

(null)

On the first day, family day, the film was showed to parents mostly but there were also some specialists in the audience.

IMG_3882

On second day the film was showed to the researchers and patient representatives at the symposium.

IMG_3909

On both days the film got a standing ovation from the audience.

They praised the quality of the film, how well it explains AHC in layman terms but also how moving it is without being too emotionally difficult to watch.

AF gjafir

Águsta Fanney has done a fantastic job of balancing emotions and facts in the documentary and it is our belief that it will go a long way to put AHC on the map.

ATP1A3 SYMPOSIUM, WASHINGTON DC 27-29 August 2015

Screen Shot 2015-07-12 at 18.58.45

The aim of the Symposium is to provide a forum for the sharing of latest research findings for ATP1A3 mutations in disease, with an emphasis on Alternating Hemiplegia of Childhood (AHC), to promote the international collaboration and recruit new teams of researchers. This conference builds on previous similar conferences in Brussels, Belgium (2012), Rome, Italy (2013), & Lunteren, Netherlands (2014).

Click HERE for the official website

Comprehensive article on Genotype-Phenotype Correlations in 187 subjects

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

journal.pone.0127045.g001
Louis Viollet, Gustavo Glusman, Kelley J. Murphy, Tara M. Newcomb, Sandra P. Reyna, Matthew Sweney, Benjamin Nelson, Frederick Andermann, Eva Andermann, Gyula Acsadi, Richard L. Barbano, Candida Brown, Mary E. Brunkow, Harry T. Chugani, Sarah R. Cheyette, Abigail Collins, Suzanne D. DeBrosse, David Galas, Jennifer Friedman, Lee Hood, Chad Huff, Lynn B. Jorde, Mary D. King, Bernie LaSalle, Richard J. Leventer, Aga J. Lewelt, Mylynda B. Massart, Mario R. Mérida II, Louis J. Ptáček, Jared C. Roach, Robert S. Rust, Francis Renault, Terry D. Sanger, Marcio A. Sotero de Menezes, Rachel Tennyson, Peter Uldall, Yue Zhang, Mary Zupanc, Winnie Xin, Kenneth Silver, Kathryn J. Swoboda

journal.pone.0127045.t001

To read the article click HERE