Objective: To characterize early-onset and familial PD cases within a Kyrgyz PD cohort and assess their potential for future family-based genetic studies.

Background: Early-onset PD (EOPD) and familial PD are more likely to be associated with monogenic forms and are therefore particularly informative for genetic research, yet, Central Asian populations remain underrepresented in global PD genetic studies.

Method: We analyzed 80 patients selected from a cohort of 300 consecutively recruited PD patients across Kyrgyzstan [Figure 1 and Table 1]. The subset included individuals with EOPD (age at onset (AAO) ≤50 years) and/or a positive family history (FH) of PD. Clinical diagnosis was established according to MDS diagnostic criteria. Demographic and clinical data were collected, including AAO, disease duration, motor and nonmotor phenotype, treatment history, and detailed FH.

Results: Among the 300 PD patients, 80 individuals (26.7%) met criteria for EOPD and/or positive FH. The mean age at examination was 55.2 ± 9.4 years, and the mean AAO was 47.2 ± 9.8 years. EOPD was observed in 59 patients (73.8%), including patients with onset ≤40 years and ≤30 years [Figure 2]. A positive FH of PD was reported in 29 patients, including 4 with affected first-degree relatives; 4 families were classified as multiplex pedigrees. Additional family history indicators are summarized in Table 2.

Conclusion: This subset from a Kyrgyz PD cohort demonstrates a substantial proportion of EOPD and familial PD cases, supporting the feasibility of family-based genetic studies and expansion of ongoing PD genetic research in Central Asia.

Figure 1.

Figure 2: Age-at-onset distribution

Table 1

Table 2

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MDS Abstracts - https://www.mdsabstracts.org/abstract/early-onset-and-familial-parkinsons-disease-in-kyrgyzstan-a-pd-cohort-subset-for-family-based-genetic-studies/