Diagnostic work up when suspecting early onset Parkinson disease (EOPD). Recommendations from the MDS EOPD study...

Area of Science:

• Neurology
• Movement Disorders

Background:

• Early onset Parkinson's disease (EOPD) is defined as Parkinson's disease (PD) with motor symptom onset between ages 21 and 50.
• Clinicians often face diagnostic uncertainty in EOPD, leading to delayed diagnosis and treatment.

Purpose of the Study:

• To establish recommendations for diagnostic investigations in suspected EOPD.
• To streamline the diagnostic process and reduce unnecessary investigations.

Main Methods:

• A Delphi process was employed by 15 steering committee members of the EOPD study group of the International Parkinson Disease and Movement Disorder Society (MDS).
• A survey with 10 questions was completed, followed by a meeting to formulate recommendations on necessary investigations for EOPD diagnosis.

Main Results:

• Respondents had an average of 18.2 years of experience in managing EOPD.
• The committee discussed the utility of brain MRI, DaT SPECT scan, laboratory tests, and genetic testing for EOPD diagnosis.

Conclusions:

• For suspected EOPD based on history and examination, limit investigations to brain MRI and Wilson's disease laboratory tests.
• This focused approach can expedite diagnosis and treatment initiation.
• Genetic testing is not essential for diagnosis but may aid in identifying novel genetic causes for research purposes.