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Parkinson's Disease: Overview01:15

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Neurodegenerative disorders are progressive diseases that cause irreversible damage and loss to neurons in specific brain areas. Examples of these disorders include Parkinson's disease, Alzheimer's disease, Multiple Sclerosis (MS), and Amyotrophic Lateral Sclerosis (ALS). These disorders share characteristics such as proteinopathies, selective neuronal vulnerability, and a complex interplay between genetic and environmental factors. The primary therapeutic goal for these conditions is...
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Abbiategrasso Brain Bank Protocol for Collecting, Processing and Characterizing Aging Brains
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Parkinson's Progression Markers Initiative brain autopsy program.

Syed A Bukhari1, Kelly N H Nudelman2, Malia Rumbaugh2

  • 1Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA.

Parkinsonism & Related Disorders
|July 8, 2022
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Summary
This summary is machine-generated.

Brain autopsies from the Parkinson's Progression Markers Initiative (PPMI) confirm clinical diagnoses and reveal genetic factors influencing Parkinson's disease (PD) progression. This valuable resource aids in developing better PD biomarkers.

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Area of Science:

  • Neuropathology
  • Neurodegenerative Diseases
  • Biomarker Development

Background:

  • The Parkinson's Progression Markers Initiative (PPMI) is a crucial study for understanding Parkinson's disease (PD).
  • Brain autopsies provide definitive insights into neurodegenerative processes and disease confirmation.
  • Initial findings from the PPMI brain autopsy program are now available.

Purpose of the Study:

  • To report on the initial cohort of brain autopsies from the PPMI study.
  • To correlate clinical diagnoses with neuropathological findings.
  • To identify genetic factors and comorbidities associated with Parkinson's disease progression.

Main Methods:

  • Collection and neuropathological examination of 17 brain autopsies from PPMI participants.
  • Review of clinical diagnoses, cognitive assessments, and genetic data (GBA, LRRK2, APOE).
  • Summary of longitudinal DAT neuroimaging, CSF, and plasma biomarker data.

Main Results:

  • Neuropathological examination confirmed clinical diagnoses of Parkinson's disease (n=15), multiple system atrophy (n=1), and Dementia with Lewy bodies (n=1).
  • Genetic analysis revealed carriers of GBA N370S, LRRK2 mutations (R1441G, G2019S), and APOE variants (ε2, ε4).
  • Common comorbidities were observed, with no evidence of chronic traumatic encephalopathy.

Conclusions:

  • Brain autopsy data from PPMI confirm clinical diagnoses and offer new insights into Parkinson's disease progression.
  • The PPMI brain autopsy program is establishing a valuable, annotated resource for PD research.
  • This resource will support the development of biomarkers for tracking PD progression.