Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

Journal of Central Nervous System Disease

Original Research

Saeed Al Tala¹  Saud Alsahli²  Fuad Al Mutairi³  Majid Alfadhel³  Muhammad Talal Alrifai⁴ 

[1] Division of Genetics, Department of Pediatrics, Armed Forces Hospital, Khamis Mushayt, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), Division of Genetics, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia;King Abdullah International Medical Research Center (KAIMRC), Division of Neurology, Department of Pediatrics, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia;

关键词: CAMRQ4;    ataxia;    mental retardation;    intellectual disability;    disequilibrium syndrome;    ATP8A2;    WES;    encephalopathy;    hypotonia;    chorea;    choreoathetoid movements;    optic atrophy;   

DOI  :  10.1177/1179573518759682

 received in 2017-08-06, accepted in 2018-01-26,  发布年份 2018

来源: Sage Journals

【 授权许可】

CC BY-NC   
© The Author(s) 2018

【 图 表 】

Figure 3.