患者存在典型早发性帕金森病，携带新型 RAB39B 功能丧失性突变。
Novel RAB39B loss-of-function mutation in patient with typical early-onset Parkinson's disease.
机构信息
Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
出版信息
Parkinsonism Relat Disord. 2024 Jun;123:106038. doi: 10.1016/j.parkreldis.2024.106038. Epub 2024 Feb 13.
RAB39B mutations have been identified in X-linked developmental delays. Recently, RAB39B mutations were identified in males with early-onset parkinsonism and intellectual disability. A novel loss-of-function RAB39B mutation was found in a female patient with typical early-onset Parkinson's disease (EOPD). RAB39B mutations may cause EOPD, potentially due to a-synuclein homeostasis disruption.
RAB39B 突变已被确定与 X 连锁发育迟缓有关。最近，RAB39B 突变也被发现存在于早发性帕金森病和智力障碍的男性患者中。一名典型早发性帕金森病（EOPD）女性患者中发现了一种新的 RAB39B 功能丧失突变。RAB39B 突变可能导致 EOPD，其潜在机制可能与 α-突触核蛋白的体内平衡破坏有关。
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