Association of MAPT subhaplotypes with clinical and demographic features in Parkinson’s disease

• Published in: Annals of clinical and translational neurology 2020-09, Vol.7 (9), p.1557-1563
• Main Authors: Deutschlander, Angela B., Konno, Takuya, Soto‐Beasley, Alexandra I., Walton, Ronald L., Gerpen, Jay A., Uitti, Ryan J., Heckman, Michael G., Wszolek, Zbigniew K., Ross, Owen A.
• Format: Article
• Language: English
• Subjects: Age; Behavior disorders; Dementia; Disease; Dyskinesia; Gait; Genotype & phenotype; Hallucinations; Haplotypes; Health risk assessment; Mutation; Orthostatic hypotension; Parkinson's disease; Patients; Posture; REM sleep; Restless legs syndrome; Tremor (Muscular contraction)
• ISSN: 2328-9503; 2328-9503
• DOI: 10.1002/acn3.51139

Objective To determine whether distinct microtubule‐associated protein tau MAPT H1 subhaplotypes are associated with clinical and demographic features in Parkinson’s disease. Methods A retrospective cohort study included 855 unrelated Caucasian patients with Parkinson’s disease who were seen by Movement Disorder specialists at the Mayo Clinic Florida between 1998 and 2016. The primary outcome measures were specific demographic and clinical features of Parkinson’s disease, including age at onset, disease progression, survival, motor signs, dementia, dystonia, dyskinesia, autonomic dysfunction, impulse control disorder, psychiatric features, REM sleep behavior disorder, restless legs syndrome, and Parkinson’s disease subtype. Specific clinical features were measured at the initial visit and most recent visit. These outcomes were assessed for association with MAPT H1 subhaplotypes, which were defined by six haplotype tagging variants. Results Median onset age was 64 years (range: 22‐94 years); 548 (64%) of patients were male. Significant associations (P