PTRHD1 Loss‐of‐function mutation in an african family with juvenile‐onset Parkinsonism and intellectual disability

Abstract excerpt

BACKGROUND: The genetic bases of PD in sub-Saharan African (SSA) populations remain poorly characterized, and analysis of SSA families with PD might lead to the discovery of novel disease-related genes. OBJECTIVES: To investigate the clinical features and identify the disease-causing gene in a black South African family with 3 members affected by juvenile-onset parkinsonism and intellectual disability. METHODS:...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Amyotrophic Lateral Sclerosis Research
• Share to Neurological diseases and metabolism
• Share to Parkinson's Disease Mechanisms and Treatments