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Parkinson's disease in a patient with multiple sclerosis and heterozygous glucocerebrosidase gene mutation

Sentilija Delalić1,2, Tomaž Rus2, Alenka Horvat Ledinek2

  • 1Department of Neurology, Izola General Hospital, Izola, Slovenia.

Clinical Parkinsonism & Related Disorders
|July 28, 2021
PubMed

Insights

This study reports a rare case of multiple sclerosis (MS) and Parkinson's disease (PD) co-occurrence. The patient, diagnosed with MS, later developed PD symptoms and carried a GBA1 gene mutation, a known PD risk factor.

Area of Science:

  • Neuroscience
  • Genetics
  • Neurology

Background:

  • Co-occurrence of multiple sclerosis (MS) and Parkinson's disease (PD) is rare, with over 30 cases reported.
  • Existing theories on MS-PD co-occurrence range from coincidental to causal links.
  • Previous reports include one case of MS in young-onset PD with a Parkin mutation.

Purpose of the Study:

  • To report a unique case of a patient with multiple sclerosis who developed Parkinson's disease.
  • To investigate the genetic factors potentially contributing to the co-occurrence of these two neurodegenerative diseases in the reported patient.

Main Methods:

  • Clinical case presentation and neurological examination.
  • Genetic analysis to identify mutations in relevant genes.
  • Review of existing literature on MS and PD co-occurrence.

Main Results:

  • The patient presented with multiple sclerosis and subsequently developed clinical signs consistent with Parkinson's disease.
  • Genetic testing revealed the patient was heterozygous for a mutation in the glucocerebrosidase gene (GBA1).
  • GBA1 mutations are recognized as a significant genetic risk factor for Parkinson's disease.

Conclusions:

  • This case adds to the limited number of reported instances of multiple sclerosis and Parkinson's disease co-occurrence.
  • The presence of a GBA1 mutation in a patient with both MS and PD suggests a potential genetic link or contribution.
  • Further research is warranted to understand the complex interplay between genetic factors and the development of both MS and PD.
Keywords:
Glucocerebrosidase gene mutationMultiple sclerosisParkinson's disease

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