Novel asymptomatic CNS findings in patients with ACVR1/ALK2 mutations causing fibrodysplasia ossificans progressiva

Conclusions
Our data support the hypothesis that the effects of mutation of the ACVR1/ALK2 gene are extended to the central nervous system. Brainstem hamartomatous lesions and dysmorphisms, variably associated with dentate nucleus and basal ganglia signal abnormalities and/or calcifications, may represent useful disease hallmarks.

Source: Journal of Medical Genetics - November 22, 2016 Category: Genetics & Stem Cells Authors: Severino, M., Bertamino, M., Tortora, D., Morana, G., Uccella, S., Bocciardi, R., Ravazzolo, R., Rossi, A., Di Rocco, M. Tags: Phenotypes Source Type: research