Heartbeat signature for predicting motor and non-motor involvement among nonparkinsonian LRRK2 G2019S mutation carriers

被引：0

作者：

Carricarte Naranjo, Claudia ^{[1
]}

Marras, Connie ^{[2
,3
]}

Visanji, Naomi P. ^{[2
,3
,4
,5
,6
]}

Cornforth, David J. ^{[7
]}

Sanchez-Rodriguez, Lazaro ^{[8
]}

Schule, Birgitt ^{[9
]}

Goldman, Samuel M. ^{[10
]}

Estevez, Mario ^{[11
]}

Stein, Phyllis K. ^{[12
]}

Jelinek, Herbert F. ^{[13
,14
]}

Lang, Anthony E. ^{[2
,3
]}

Machado, Andres ^{[1
]}

机构：

[1] Univ La Habana, Fac Biol, Havana, Cuba

[2] Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, Toronto, ON, Canada

[3] Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, Canada

[4] Univ Toronto, Tanz Ctr Res Neurodegenerat Dis, Toronto, ON, Canada

[5] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON, Canada

[6] Univ Hlth Network, Krembil Brain Inst, Toronto, ON, Canada

[7] NCIS, Brattleboro, VT USA

[8] Univ Calgary, Dept Radiol, Calgary, AB, Canada

[9] Stanford Sch Med, Dept Pathol, Stanford, CA USA

[10] Univ Calif San Francisco, Dept Neurol, San Francisco, CA USA

[11] Inst Neurol & Neurocirugia, Dept Neurofisiol Clin, Havana, Cuba

[12] Washington Univ, Sch Med, St Louis, MO USA

[13] Khalifa Univ, Dept Med Sci, Abu Dhabi, U Arab Emirates

[14] Khalifa Univ, Biotechnol Ctr, Abu Dhabi, U Arab Emirates

来源：

CLINICAL AUTONOMIC RESEARCH | 2025年 / 35卷 / 03期

关键词：

Heart rate variability; Deceleration capacity of heart rate; R & eacute; nyi entropy; Cardiac autonomic modulation; LRRK2; mutation; Parkinson's disease; SLEEP BEHAVIOR DISORDER; PARKINSONS-DISEASE; BASAL FOREBRAIN; QUESTIONNAIRE; HETEROGENEITY; PENETRANCE; PHENOTYPE; GENE;

D O I：

10.1007/s10286-024-01104-6

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

PurposeIncreased beat-to-beat heart rate variability (HRV) is a feature of patients with Parkinson's disease (PD) who carry the G2019S mutation in the LRRK2 gene (LRRK2-PD). Since LRRK2 mutations have incomplete penetrance, HRV changes preceding PD conversion would likely be observed only in a subset of LRRK2 non-manifesting carriers (NMC). We aimed to assess HRV in a subgroup of NMC with distinctive characteristics of LRRK2-PD, identified through clustering analysis.MethodsHRV measures derived from 300 normal heartbeat intervals extracted from the electrocardiograms of 25 NMC, 32 related non-carriers (RNC), 27 unrelated healthy controls, and 14 patients with LRRK2-PD were analyzed. Clinical symptoms were evaluated using questionnaires and scales, and three NMC subgroups were identified using a k-means cluster analysis on the basis of the deceleration capacity of heart rate (DC) and R & eacute;nyi entropy. Standard and advanced HRV measures were compared using multiple regression analysis, controlling for age, sex, and mean heart rate.ResultsBeat-to-beat HRV markers were significantly increased in a subgroup of seven NMC (NMC2, 28%) compared with RNC and controls. Increased irregularity and DC were also verified in the NMC2 compared with controls, and were typical traits in both the NMC2 and RNC. Overall, the HRV profile of NMC2 was comparable to that of patients with LRRK2-PD. NMC2 further exhibited greater motor and non-motor traits than the other NMC, RNC, and controls.ConclusionsOur results confirmed that HRV characteristics of LRRK2-PD are also found in a subset of NMC displaying clinical traits of LRRK2-PD. Further research is needed to clarify whether higher HRV represents a LRRK2-PD prodromal manifestation.

引用

页码：407 / 419

页数：13

共 60 条

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