Genetic Movement Disorders Commonly Seen in Asians

被引：6

作者：

Jagota, Priya ^{[1
,2
,21
]}

Lim, Shen-Yang ^{[3
,4
]}

Pal, Pramod Kumar ^{[5
]}

Lee, Jee-Young ^{[6
,7
]}

Kukkle, Prashanth Lingappa ^{[8
,9
]}

Fujioka, Shinsuke ^{[10
]}

Shang, Huifang ^{[11
]}

Phokaewvarangkul, Onanong ^{[1
,2
]}

Bhidayasiri, Roongroj ^{[12
]}

Ibrahim, Norlinah Mohamed ^{[13
]}

Ugawa, Yoshikazu ^{[14
]}

Aldaajani, Zakiyah ^{[15
]}

Jeon, Beomseok ^{[16
,17
]}

Diesta, Cid ^{[18
]}

Shambetova, Cholpon ^{[19
]}

Lin, Chin-Hsien ^{[20
]}

机构：

[1] Chulalongkorn Univ, Fac Med, Chulalongkorn Ctr Excellence Parkinsons Dis & Rela, Dept Med, Bangkok, Thailand

[2] King Chulalongkorn Mem Hosp, Thai Red Cross Soc, Bangkok, Thailand

[3] Univ Malaya, Fac Med, Dept Med, Div Neurol, Kuala Lumpur, Malaysia

[4] Univ Malaya, Fac Med, Mah Pooi Soo & Tan Chin Nam Ctr Parkinsons & Relat, Kuala Lumpur, Malaysia

[5] Natl Inst Mental Hlth & Neurosci NIMHANS, Dept Neurol, Bengaluru, India

[6] Seoul Natl Univ, Dept Neurol, Seoul Metropolitan Govt, Boramae Med Ctr, Seoul, South Korea

[7] Seoul Natl Univ, Coll Med, Seoul, South Korea

[8] Manipal Hosp, Ctr Parkinsons Dis & Movement Disorders, Bangalore, India

[9] Parkinsons Dis & Movement Disorders Clin, Bangalore, India

[10] Fukuoka Univ, Fac Med, Dept Neurol, Fukuoka, Japan

[11] Sichuan Univ, West China Hosp, Rare Dis Ctr, Lab Neurodegenerat Disorders,Dept Neurol, Chengdu, Peoples R China

[12] Acad Sci, Royal Soc Thailand, Bangkok, Thailand

[13] Univ Kebangsaan Malaysia, Fac Med, Dept Med, Neurol Unit, Kuala Lumpur, Malaysia

[14] Fukushima Med Univ, Fac Med, Dept Human Neurophysiol, Fukushima, Japan

[15] King Fahad Mil Med Complex, Neurol Unit, Dhahran, Saudi Arabia

[16] Seoul Natl Univ, Dept Neurol, Coll Med, Seoul, South Korea

[17] Seoul Natl Univ Hosp, Movement Disorder Ctr, Seoul, South Korea

[18] Makati Med Ctr, Dept Neurosci, Sect Neurol, NCR, Makati, Philippines

[19] IK Akhunbaev Kyrgyz State Med Acad, Bishkek, Kyrgyzstan

[20] Natl Taiwan Univ Hosp, Dept Neurol, Taipei, Taiwan

[21] King Chulalongkorn Mem Hosp, Chulalongkorn Ctr Excellence Parkinson Dis & Relat, 7th Floor,Sor Tor Bldg,1873 Rama 4 Rd, Bangkok 10330, Thailand

来源：

MOVEMENT DISORDERS CLINICAL PRACTICE | 2023年 / 10卷 / 06期

关键词：

movement disorders; genetic; Asia; ATAXIA TYPE 31; DOMINANT CEREBELLAR-ATAXIA; SPINOCEREBELLAR ATAXIA; PARKINSONS-DISEASE; EARLY-ONSET; GLUCOCEREBROSIDASE MUTATIONS; WILSONS-DISEASE; CLINICAL-FEATURES; PRION DISEASE; CHINESE PATIENTS;

D O I：

10.1002/mdc3.13737

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The increasing availability of molecular genetic testing has changed the landscape of both genetic research and clinical practice. Not only is the pace of discovery of novel disease-causing genes accelerating but also the phenotypic spectra associated with previously known genes are expanding. These advancements lead to the awareness that some genetic movement disorders may cluster in certain ethnic populations and genetic pleiotropy may result in unique clinical presentations in specific ethnic groups. Thus, the characteristics, genetics and risk factors of movement disorders may differ between populations. Recognition of a particular clinical phenotype, combined with information about the ethnic origin of patients could lead to early and correct diagnosis and assist the development of future personalized medicine for patients with these disorders. Here, the Movement Disorders in Asia Task Force sought to review genetic movement disorders that are commonly seen in Asia, including Wilson's disease, spinocerebellar ataxias (SCA) types 12, 31, and 36, Gerstmann-Straussler-Scheinker disease, PLA2G6-related parkinsonism, adult-onset neuronal intranuclear inclusion disease (NIID), and paroxysmal kinesigenic dyskinesia. We also review common disorders seen worldwide with specific mutations or presentations that occur frequently in Asians.

引用

页码：878 / 895

页数：18

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