'Atypical' Parkinson's disease - genetic

Area of Science:

• Neurology
• Genetics
• Movement Disorders

Background:

• Atypical Parkinson's disease (PD) encompasses monogenic forms presenting with distinct clinical signs.
• These forms can be categorized based on genetic mutations and associated atypical features.

Purpose of the Study:

• To outline the classification and clinical characteristics of genetic atypical Parkinson's disease.
• To highlight key genetic mutations and their corresponding atypical PD phenotypes.

Main Methods:

• Review and synthesis of current literature on genetic atypical Parkinson's disease.
• Classification of genetic PD based on mutation type and clinical presentation.

Main Results:

• Genetic atypical PD is sub-grouped into forms caused by specific gene mutations (e.g., ATP13A2, DCTN1), those resembling idiopathic PD with atypical features (e.g., SNCA, LRRK2), and those linked to other movement disorder genes.
• Common atypical features include early age at onset and cognitive decline.
• Specific red flag symptoms like supranuclear gaze palsy (ATP13A2) or hypoventilation (DCTN1) can indicate particular genetic forms.

Conclusions:

• Genetic atypical Parkinson's disease presents diverse phenotypes driven by specific gene mutations.
• Recognizing shared and distinct atypical features, along with genetic red flags, is crucial for accurate diagnosis and management.