Article
Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes.
Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2023
Angelini Chloé, Durand Christelle Marie, Fergelot Patricia, Deforges Julie, Vital Anne, Menegon Patrice, Sarrazin Elizabeth, Bellance Rémi, Mathis Stéphane, Gonzalez Victoria, Renaud Mathilde, Frismand Solène, Schmitt Emmanuelle, Rouanet Marie, Burglen Lydie, Chabrol Brigitte, Desnous Béatrice, Arveiler Benoît, Stevanin Giovanni, Coupry Isabelle, Goizet Cyril
Abstract excerpt
BACKGROUND: Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades of life and presents with progressive dystonia-parkinsonism, lower motor neuron signs, optic atrophy, and abnormal iron deposits predominantly in the basal ganglia. MPAN, initially considered as a strictly autosomal recessive disease (AR),...
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