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Related Concept Videos

Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...
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Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
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Parkinson Disease l: Introduction01:24

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Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...

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The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-Analysis.

Leah V Chifamba1,2, Sitki Cem Parlar1,2, Emma N Somerville1,2

  • 1The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, Quebec, Canada.

Movement Disorders : Official Journal of the Movement Disorder Society
|May 23, 2026
PubMed
Summary
This summary is machine-generated.

The GBA1 p.E427K variant increases the risk of synucleinopathies, including Parkinson's disease. This finding is supported by enzymatic data showing reduced glucocerebrosidase activity in carriers.

Keywords:
GBA p.E427kcase‐control studymeta‐analysissynucleinopathies

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Genetic variants in GBA1 are established risk factors for synucleinopathies like Parkinson's disease (PD).
  • The specific role of the GBA1 p.E427K variant in disease risk was previously unclear.

Purpose of the Study:

  • To investigate the association between the GBA1 p.E427K variant and the risk of developing synucleinopathies.

Main Methods:

  • A comprehensive meta-analysis of case-control studies was conducted.
  • Data were aggregated from published literature, public resources, and large-scale cohorts.
  • Pooled odds ratios (OR) were calculated using a random-effects model.

Main Results:

  • The GBA1 p.E427K variant was significantly associated with an increased risk of synucleinopathies (pooled OR = 1.94, P = 0.0007).
  • Analysis included 67,221 patients and 123,832 controls.
  • Enzymatic assays revealed reduced glucocerebrosidase activity in carriers of the variant.

Conclusions:

  • The GBA1 p.E427K variant is confirmed as a risk factor for synucleinopathies.
  • This variant warrants consideration in future genetic research and clinical trials for synucleinopathies.