Research

Ongoing research projects:

Functional consequences of mutations in ATP1A3 causing AHC
€20,000 was awarded to Dr. Jan B Koenderink, Radboud University Nijmegen Medical Centre, The Netherlands. His group will study the molecular consequences of at least six different ATP1A3 mutations in functional in vitro assays. Eventually, the relationship between these mutations and AHC will be evaluated.

 

AFHA is supporting scientific research projects in France. AFHA will give a financial support (about 80.000 to 100.000 Euros), as well as a logistic support for those projects :

 

  1. Abnormal movements in AHC:

The objective is to describe, study and maybe give some help as far as non paroxysmal (so not linked to attacks) abnormal movements are concerned for AHC patients, either children, or adults. 19 French patients have been included in this study.

 

  1. Therapeutic trial:

The objective is to decrease the frequency/severity of paroxysmal events (hemiplegic attacks, dystonic attacks, seizures) for AHC patients.

At this stage the trial will be only a “pilot test” with a few number of patients. In case of success the trial will be extended to a larger AHC population to prove the efficiency and then ask for a classification of this product as a medicine suitable for AHC.

 

AESHA and AISEA Onlus are financing the AHC-MOME-IT project (Molecular Mechanisms in AHC), directed by Dr. Fiorella Gurrieri.

The aims of the project are the following:

1 To create “in vitro” neuronal cells with AHC-specific mutations in their ATP1A3 genes (AHC neurons).

2 The platform described in point 1 will then be used to study precisely this specific molecular defect in the functioning of the ATP-ase pump in these AHC-neurons (molecular pathogenesis).

3 Then, we intend to test the “in vitro” effect of AHC-neurons with different compounds / molecules that may be effective in correcting this defect.

If any of the compounds tested in the “in vitro” model is effective, the next step will be the testing in patients, through therapeutic trials.

 

Research being supported by AHCF

Publications: 

Alternating Hemiplegia of Childhood: Early Characteristics and Evolution of a Neurodevelopmental Syndrome

Child Neurology: Alternating hemiplegia of childhood Jeffrey R. Tenney, MD, PhD and Mark B. Schapiro, MD

Identification of ATP1A3 Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients

Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism: Phenotypic spectrum of ATP1A3-associated disorders

Alternating hemiplegia of childhood is caused by heterozygous de novo mutations in the ATP1A3 gene: The expanding mutational spectrum of ATP1A3-related dystonic movement disorders

 

 

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