2025/07/09 by Yuko Okawa, Muneaki Matsuo, Rika Kosaki +18 · 1 voice
Biochemistry, Genetics and Molecular Biology · Medicine · #Clusterin in disease pathology #Hedgehog Signaling Pathway Studies #Nuclear Structure and Function
paper · pdf · doi:10.18632/aging.206277
openalex publication_date 2025/07/09 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/31
BACKGROUND AND AIM: Hutchinson-Gilford Progeria Syndrome (HGPS) and progeroid laminopathies (PL) are rare genetic disorders characterized by accelerated aging and early onset cardiovascular complications. Despite recent advances in the genetic diagnosis of HGPS and PL and the advent of lonafarnib treatment, the epidemiology and clinical characteristics of these disorders in Asia remain unclear. This study aimed to assess the prevalence, clinical features, and diagnostic trends of the HGPS and PL in Japan. METHODS: A nationwide two-step survey was conducted between July 2022 and January 2024, across 1,513 medical facilities. RESULTS: = 2) were reported alive on October 2023, and the prevalence of HGPS was estimated to be 1 in 15.5 to 31.1 million. CONCLUSIONS: This study provides updated epidemiological and clinical insights into HGPS and related laminopathies in Japan. The introduction of lonafarnib has the potential to extend survival, emphasizing the need to monitor for late-stage complications.