title: A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.
abstract: Mutations in RAB39B have been reported as a potential cause of X-linked Parkinson's disease (PD), a rare form of familial PD. We conducted a genetic analysis on RAB39B to evaluate whether RAB39B mutations are related to PD in the Chinese population.
  
  
  
  In this study, 2 patients from an X-linked juvenile parkinsonism pedigree were clinically characterized and underwent whole-exome sequencing. A comprehensive screening for RAB39B mutations in 505 sporadic patients with PD and 510 healthy controls in a Chinese population was also performed.
  
  
  
  A novel mutation, c. 536dupA (p.E179fsX48), in RAB39B was identified in the juvenile parkinsonism pedigree. Brain MRI and CT scans in the 2 patients revealed calcification within the bilateral globus pallidus. No other potentially disease-causing RAB39B mutations were found in sporadic PD patients and controls.
  
  
  
  X-linked juvenile parkinsonism could be caused by a RAB39B mutation, and basal ganglia calcification may be a novel clinical feature of RAB39B-related parkinsonism. © 2016 International Parkinson and Movement Disorder Society.
authors.affiliation: Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Chang-He
authors.initials: CH
authors.lastname: Shi
authors.affiliation: Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Shu-Yu
authors.initials: SY
authors.lastname: Zhang
authors.affiliation: Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.|Institute of Clinical Medicine, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Zhi-Hua
authors.initials: ZH
authors.lastname: Yang
authors.affiliation: Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.affiliation: Department of Neurology, Luoyang Central Hospital Affiliated to Zhengzhou University, Luoyang, Henan, China.
authors.forename: Dan-Dan
authors.initials: DD
authors.lastname: Shang
authors.affiliation: Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Cheng-Yuan
authors.initials: CY
authors.lastname: Mao
authors.affiliation: Department of MRI, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Liu
authors.affiliation: Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Hai-Man
authors.initials: HM
authors.lastname: Hou
authors.affiliation: Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Meng-Meng
authors.initials: MM
authors.lastname: Shi
authors.affiliation: Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Jun
authors.initials: J
authors.lastname: Wu
authors.affiliation: Department of Neurology, The First affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
authors.forename: Yu-Ming
authors.initials: YM
authors.lastname: Xu
mesh_terms: D000328:Adult; D001480:Basal Ganglia Diseases / Q000000981:diagnostic imaging / Q000235:genetics*; D002114:Calcinosis / Q000235:genetics*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000000981:diagnostic imaging / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D010300:Parkinson Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D020691:rab GTP-Binding Proteins / Q000235:genetics*
chemical_list: C547812:Rab39B protein, human; D020691:rab GTP-Binding Proteins
keywords: RAB39B; X-linked juvenile parkinsonism; basal ganglia calcification