The AHC's gene is identified

Research Published August 30 2012
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Identification of the gene responsible for alternating hemiplegia of childhood: an successful example of international collaboration leading to a major advance for an orphan disease.

 

Alternating hemiplegia of childhood, AHC, is a sporadic disease characterized by recurrent episodes of hemiplegia with non-paroxysmal manifestations including neurodevelopmental delay. A fruitful international collaborative effort between basic researchers, clinicians, and patients associations (AFHA, I.B.AHC), has identified ATP1A3 as the gene responsible for AHC1. Sophie Nicole2 coordinated the French effort of this collaboration.

 

ATP1A3 accounts for 75% of the AHC cases and encodes the alpha 3 subunit of the neuronal sodium-potassium pump. This pump is critical for the regulation of neuronal excitability and has been already linked to rapid-onset dystonia-parkinsonism3 .
This work, that was mainly supported by patients’ organizations4 , has major implications for AHC since it already allows to propose a molecular diagnosis to the patients and to give clues towards new therapeutical approaches.

 

1 Heinzen et al., De novo mutations in ATP1A3 cause alternating hemiplegia of childhood, Nature Genetics, July 29th
2 Research team Inserm, CNRS, UPMC and ICM leaded by Sophie Nicole and Bertrand Fontaine
3 RDP/DYT12
4 AFHA and AFM for the French team