Session Information
Date: Tuesday, June 6, 2017
Session Title: Parkinson's Disease: Pathophysiology
Session Time: 1:45pm-3:15pm
Location: Exhibit Hall C
Objective:
To assess the association between the genotype and the axial signs.
Background: Regarding the onset of axial signs in Parkinson’s Disease (PD), heterogeneity has been highlighted. In fact, in early-onset PD patients Dysarthria, swallowing disturbance and respiratory muscles dysfunction can be observed. Due to their impact on the outcome and quality of life, evidencing risk factors of these symptoms is essential to optimize the follow-up of our patients.
Methods:
MAPT haplotypes and COMT polymorphism were tested in 31 PD patients (mean age= 61.4 years ± 6.5) of the Prodigy-Park 1 cohort with a mean disease duration of 1.1 years (±1.1). Neurological, swallowing and voice and pulmonary function testing evaluations were performed.
Results:
A valine homozygous polymorphism (n=11) was associated with a significantly higher sniff nasal inspiratory pressure (SNIP) in comparison with methionine homozygous (n=7) and heterozygous polymorphism (n=13) (78% ± 14.2 vs. 60.9% ± 19.8 – p=0.02). Regarding MAPT gene, patients with a H1/H1 haplotype (n=21) had a significantly higher severity of their dysarthria assessed by a French adaptation of the Frenchay Dysarthria Assessment (4 ± 2.7 vs. 1.4 ± 2.2 – p=0.02).
Conclusions:
The onset of dysarthria or inspiratory muscle weakness might be associated with the genotype. Dopamine might impact on the ventilatory function and MAPT H1 haplotype could lead to a pseudobulbar palsy. We need to be confirmed these results in a larger cohort to assess the influence of MAPT haplotypes or COMT polymorphism in the other features of the axial signs (such as the swallowing disturbance).
References: Thenganatt MA, Jankovic J. Parkinson disease subtypes.. JAMA Neurol. 2014 Apr;71(4):499-504. Moreau C, Devos D, Baille G, Delval A, Tard C, Perez T, Danel-Buhl N, Seguy D, Labreuche J, Duhamel A, Delliaux M, Dujardin K, Defebvre L, Are Upper-Body Axial Symptoms a Feature of Early Parkinson’s Disease? PLoS One. 2016;11(9):e0162904.
To cite this abstract in AMA style:
G. BAILLE, D. DEVOS, V. HUIN, T. PEREZ, B. SABLONNIERE, L. DEFEBVRE, C. MOREAU. Axial signs in early-stage Parkinson’s disease : an influence of the genotype ? [abstract]. Mov Disord. 2017; 32 (suppl 2). https://www.mdsabstracts.org/abstract/axial-signs-in-early-stage-parkinsons-disease-an-influence-of-the-genotype/. Accessed May 18, 2025.« Back to 2017 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/axial-signs-in-early-stage-parkinsons-disease-an-influence-of-the-genotype/