Category: Parkinsonism, Atypical: MSA
Objective: To assess family history (FH) for neurodegenerative disorders in people with multiple system atrophy (MSA), compare its prevalence with that of a prospectively recruited Parkinson’s disease (PD) cohort, population-based controls, and historical MSA cohorts. To investigate clinic-demographic differences between FH-positive and negative MSA.
Background: MSA is generally considered a sporadic disease, but a FH for parkinsonism and other neurodegenerative disorders may occur.
Method: We screened the Innsbruck MSA (n=255) and PD Registry (n=368) for patients providing conclusive FH for neurodegenerative disorders among first-to-third degree relatives. FH prevalence rates of population-based controls and historical MSA cohorts were identified by a PubMed search.
Results: Forty percent of MSA and 54% of PD cases (p=0.023) reported a FH for neurodegenerative disorders. Familial clustering (≥2 affected relatives) occurred in 10% of MSA and 17% of PD (p=0.065). The prevalence of first-degree FH for parkinsonism was comparable between MSA and PD patients [10.4% (95% CI 6.3-16.6) vs. 17.1% (95% CI 12.6-22.7); p=0.079], whereas both exceeded prevalence rates of population-based controls [5.6% (95% CI 5.1-6.1); vs. MSA p=0.012; vs. PD p<0.001]. Except for first-degree FH for dementia, FH prevalence rates of the Innsbruck MSA cases were comparable or exceeded those from historical cohorts. We did not observe differences in the clinic-demographic characteristics between FH-positive and negative MSA.
Conclusion: We found a high prevalence for neurodegenerative disorders among relatives of MSA, with first-degree FH for parkinsonism exceeding the prevalence in the general population. These findings indicate that polygenic, yet unidentified, factors may contribute to the pathogenesis of the disease.
Preliminary results of this study were submitted to and presented at the annual meetings of the joint EAN-EFAS (May 20201), Austrian Society of Neurology (September 2020), Austrian Parkinson’s Disease Society (October 2021), and EFAS (November 20212).
References: 1. ePresentation Sessions. European journal of neurology 2020;27(S1):103-522.
2. Abstracts of the 2021 European Federation of Autonomic Societies (EFAS) Congress. Clin Auton Res 2022:81-85.
To cite this abstract in AMA style:
F. Leys, S. Eschlboeck, N. Campese, P. Mahlknecht, M. Peball, V. Sidoroff, R. Granata, V. Bonifati, J. Zschocke, S. Kiechl, W. Poewe, K. Seppi, GK. Wenning, A. Fanciulli. A clinico-genetic study based on the Innsbruck MSA Registry [abstract]. Mov Disord. 2022; 37 (suppl 2). https://www.mdsabstracts.org/abstract/a-clinico-genetic-study-based-on-the-innsbruck-msa-registry/. Accessed June 14, 2025.« Back to 2022 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/a-clinico-genetic-study-based-on-the-innsbruck-msa-registry/