Familial early onset Parkinson's disease caused by a homozygous frameshift variant in PARK7: Clinical features and literature update

Keyphrases

• Clinical Features 100%
• Early Parkinson's Disease 100%
• Clinical Literature 100%
• PARK7 100%
• Frameshift Variant 100%
• Feature Update 100%
• Literature Update 100%
• Parkinsonism 40%
• Clinical Examination 20%
• Clinical Phenotype 20%
• Family Members 20%
• Clinical Presentation 20%
• Homozygous Frameshift mutation 20%
• Exome Sequencing 20%
• Biallelic mutations 20%
• DNA Samples 20%
• Natural History 20%
• Pathological Features 20%
• High pitch 20%
• Rare Cause 20%
• Slowly Progressive 20%
• Causative Variant 20%
• Clinical Progression 20%
• Hypomimia 20%
• Levodopa-responsive 20%
• Autosomal Recessive Early-onset Parkinson's Disease 20%

Medicine and Dentistry

• Parkinson's Disease 100%
• Clinical Feature 100%
• Parkinsonism 40%
• Clinical Examination 20%
• Exome Sequencing 20%
• Autosomal Recessive Inheritance 20%
• Levodopa 20%
• Frameshift Mutation 20%
• Hypomimia 20%
• Diseases 20%
• Offspring 20%

Biochemistry, Genetics and Molecular Biology

• PARK7 100%
• Frameshift Mutation 20%
• Exome Sequencing 20%
• Autosomal Recessive Inheritance 20%
• Offspring 20%