Front Neurol 2021 25;12:648457. Epub 2021 Mar 25.
Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, INSERM, CNRS, Assistance Publique Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, CIC Neurosciences, Paris, France.
Autosomal recessive early-onset parkinsonism is clinically and genetically heterogeneous. Mutations of three genes, , and cause pure phenotypes usually characterized by levodopa-responsive Parkinson's disease. By contrast, mutations of other genes, including , and , cause rarer, more severe diseases with a poor response to levodopa, generally with additional atypical features. Read More