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Diagnostic delay in Parkinson's disease caused by PRKN mutations
Marta Ruiz-Lopez1, Maria Eliza Freitas1, Lais M Oliveira1
1Edmond J. Safra Program in Parkinson's Disease, Morton and Gloria Shulman Movement Disorders Clinic, Toronto Western Hospital, UHN, Toronto, Ontario, Canada; Division of Neurology, University of Toronto, Toronto, Ontario, Canada.
Parkinsonism & Related Disorders
|January 30, 2019
Summary
Parkin-related Parkinson disease often has diagnostic delays. A specific phenotype including young age, no tremor, and lower limb dystonia may indicate delayed diagnosis in these genetic Parkinson
Area of Science:
- Neurogenetics
- Neurology
- Molecular Biology
Background:
- Parkinson disease (PD) diagnosis can be challenging, especially in genetically defined forms.
- Mutations in the parkin RBR E3 ubiquitin protein ligase gene (PRKN) are a common cause of early-onset Parkinson disease.
- Understanding diagnostic delays is crucial for timely intervention and management.
Observation:
- This study retrospectively analyzed 34 patients with PRKN mutations, focusing on 18 cases with confirmed homozygous or compound heterozygous mutations.
- A diagnostic delay was defined as over 10 years from disease onset to diagnosis.
- Eight of the 18 patients experienced a significant diagnostic delay, averaging 25.3 years.
Findings:
- Patients with delayed PRKN-related Parkinson disease diagnosis often presented with a distinct phenotype.
- This phenotype includes young age at onset, absence of tremor, and early involvement of lower limbs, particularly dystonia affecting gait.
- Comparison with young-onset PD patients lacking common PD-associated mutations further refined these diagnostic indicators.
Implications:
- The diverse clinical presentations of PRKN mutations contribute to diagnostic challenges.
- Identifying specific phenotypic markers can aid in earlier diagnosis of Parkin-related Parkinson disease.
- Improved diagnostic timelines can lead to better patient outcomes and genetic counseling.