Jeon Mi Lee1, Mi Joo Kim2, Jinsei Jung1, Hyun Ji Kim1, Young Joon Seo1, Sung Huhn Kim1. 1. Department of Otorhinolaryngology, Yonsei University College of Medicine, Seoul, Korea. 2. Department of Otorhinolaryngology, Catholic Kwandong University College of Medicine, Incheon, Korea.
Abstract
OBJECTIVES/HYPOTHESIS: This study was undertaken to investigate the prevalence, inheritance patterns, and clinical characteristics of familial Meniere's disease (MD) in a South Korean population. STUDY DESIGN: Direct interviews, telephone interviews, and reviews of the medical records of definite Meniere's disease patients and their families. METHODS: Direct and telephone interviews were performed for 286 definite MD patients and their family members who were suspected of having MD. The diagnosis of MD in family members was made by obtaining a detailed history, performing basic neurotological examinations and reviewing hearing test results. The clinical characteristics as well as the prevalence and inheritance patterns of familial MD were analyzed. RESULTS: The prevalence of familial Meniere-like syndrome (at least one family member with definite MD and other members with probable MD) and definite familial MD (two or more family members with definite Meniere's disease) were 9.8% and 6.3%, respectively, and the most common inheritance pattern was autosomal dominant with incomplete penetrance. The significant clinical characteristics of familial cases were an early disease onset and a higher prevalence of migraines. CONCLUSIONS: This is the first report describing the genetic aspects of MD in a single large Asian population. The prevalence of definite familial MD was 6.3% with an incomplete autosomal dominant inheritance pattern in most cases. Early-onset age and a high prevalence of migraines were significant clinical features of familial MD in this South Korean population. These data could provide a basis for the analysis of the genetic mechanism of familial MD in Asian populations. LEVEL OF EVIDENCE: 4.
OBJECTIVES/HYPOTHESIS: This study was undertaken to investigate the prevalence, inheritance patterns, and clinical characteristics of familial Meniere's disease (MD) in a South Korean population. STUDY DESIGN: Direct interviews, telephone interviews, and reviews of the medical records of definite Meniere's diseasepatients and their families. METHODS: Direct and telephone interviews were performed for 286 definite MD patients and their family members who were suspected of having MD. The diagnosis of MD in family members was made by obtaining a detailed history, performing basic neurotological examinations and reviewing hearing test results. The clinical characteristics as well as the prevalence and inheritance patterns of familial MD were analyzed. RESULTS: The prevalence of familial Meniere-like syndrome (at least one family member with definite MD and other members with probable MD) and definite familial MD (two or more family members with definite Meniere's disease) were 9.8% and 6.3%, respectively, and the most common inheritance pattern was autosomal dominant with incomplete penetrance. The significant clinical characteristics of familial cases were an early disease onset and a higher prevalence of migraines. CONCLUSIONS: This is the first report describing the genetic aspects of MD in a single large Asian population. The prevalence of definite familial MD was 6.3% with an incomplete autosomal dominant inheritance pattern in most cases. Early-onset age and a high prevalence of migraines were significant clinical features of familial MD in this South Korean population. These data could provide a basis for the analysis of the genetic mechanism of familial MD in Asian populations. LEVEL OF EVIDENCE: 4.
Authors: Lidia Frejo; Teresa Requena; Satoshi Okawa; Alvaro Gallego-Martinez; Manuel Martinez-Bueno; Ismael Aran; Angel Batuecas-Caletrio; Jesus Benitez-Rosario; Juan M Espinosa-Sanchez; Jesus José Fraile-Rodrigo; Ana María García-Arumi; Rocío González-Aguado; Pedro Marques; Eduardo Martin-Sanz; Nicolas Perez-Fernandez; Paz Pérez-Vázquez; Herminio Perez-Garrigues; Sofía Santos-Perez; Andres Soto-Varela; Maria C Tapia; Gabriel Trinidad-Ruiz; Antonio Del Sol; Marta E Alarcon Riquelme; Jose A Lopez-Escamez Journal: Front Immunol Date: 2017-12-13 Impact factor: 7.561
Authors: Lidia Frejo; Andres Soto-Varela; Sofía Santos-Perez; Ismael Aran; Angel Batuecas-Caletrio; Vanesa Perez-Guillen; Herminio Perez-Garrigues; Jesus Fraile; Eduardo Martin-Sanz; Maria C Tapia; Gabriel Trinidad; Ana María García-Arumi; Rocío González-Aguado; Juan M Espinosa-Sanchez; Pedro Marques; Paz Perez; Jesus Benitez; Jose A Lopez-Escamez Journal: Front Neurol Date: 2016-10-24 Impact factor: 4.003