A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum.

ABSTRACT:

Background

Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms, with a significant genetic component. Early-onset Parkinson's disease (EOPD), manifesting before age 45, is often linked to mutations in genes such as PARK2, PINK1, and PARK7, the latter coding for the protein DJ-1.

Objective

We present the first reported cases of EOPD carrying a previously undescribed homozygous PARK7 mutation, p.Thr110Pro.

Methods

Whole exom sequencing was performed on two inbred Moroccan siblings with early-onset Parkinson's disease (EOPD). Detailed clinical assessments, including neurological evaluations and cognitive testing, were conducted to understand the clinical presentation of the patients. Genetic analysis was also

SUBMITTER: El Otmani H 

PROVIDER: S-EPMC12070185 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature