Abstract
The MAPT H1 haplotype has been identified as a predictor of cognitive decline in Parkinson's disease (PD). However, its underlying pathological mechanisms have not been fully established. In this work, using a cohort of 120 de novo PD patients with preserved cognition from the Parkinson's Progression Markers Initiative (PPMI) database, we found that patients who were homozygous for MAPT H1 had less gray matter volume (GMV) and greater 1-year GMV loss than patients without this genetic profile. Importantly, these changes were associated with a longitudinal worsening of cognitive indicators. Our findings suggest that early GMV loss in MAPT H1H1 PD patients increases their risk to develop cognitive decline.
Highlights
Cognitive decline is a core non-motor symptom of Parkinson’s disease (PD)
We investigated whether the microtubule-associated protein tau (MAPT) haplotype was related to the longitudinal development of cognitive decline, which was defined as showing a Montreal Cognitive Assessment (MoCA) score
In terms of cognitive progression, we found that 58% of patients with MAPT H1 homozygosis developed cognitive decline over a 4-year follow-up period
Summary
Cognitive decline is a core non-motor symptom of Parkinson’s disease (PD). Given its high prevalence and negative impact on the patient’s quality of life, identifying early prognostic markers of cognitive impairment in this population can help develop a person-centered care plan and achieve optimal clinical management [1].Several genetic variants have been linked to cognitive impairment in PD. Cognitive decline is a core non-motor symptom of Parkinson’s disease (PD). Given its high prevalence and negative impact on the patient’s quality of life, identifying early prognostic markers of cognitive impairment in this population can help develop a person-centered care plan and achieve optimal clinical management [1]. Several genetic variants have been linked to cognitive impairment in PD. The MAPT H1 haplotype has been associated with an increased risk for the development of dementia in this population [2]. The microtubule-associated protein tau (MAPT) gene is located on chromosome 17q21, where an inversion polymorphism of approximately 900 kb defines two haplotypes, H1 and H2. The underlying pathological mechanisms responsible for the association of this genetic variant and cognitive decline in PD remain poorly understood
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