title: Genetic Identification Is Critical for the Diagnosis of Parkinsonism: A Chinese Pedigree with Early Onset of Parkinsonism.
abstract: BACKGROUND
  A number of hereditary neurological diseases display indistinguishable features at the early disease stage. Parkinsonian symptoms can be found in numerous diseases, making it difficult to get a definitive early diagnosis of primary causes for patients with onset of parkinsonism. The accurate and early diagnosis of the causes of parkinsonian patients is important for effective treatments of these patients.
  
  
  METHODS
  We have identified a Chinese family (82 family members over four generations with 21 affected individuals) that manifested the characterized symptoms of parkinsonism and was initially diagnosed as Parkinson's disease. We followed up with the family for two years, during which we carried out clinical observations, Positron Emission Tomography-Computed Tomography neuroimaging analysis, and exome sequencing to correctly diagnose the case.
  
  
  RESULTS
  During the two-year follow-up period, we performed comprehensive medical history collection, physical examination, and structural and functional neuroimaging studies of this Chinese family. We found that the patient exhibited progressive deteriorated parkinsonism with Parkinson disease-like neuropathology and also had a good response to the initial levodopa treatment. However, exome sequencing identified a missense mutation, N279K, in exon 10 of MAPT gene, verifying that the early parkinsonian symptoms in this family are caused by the genetic mutation for hereditary frontotemporal lobar dementia.
  
  
  CONCLUSIONS
  For the inherited parkinsonian patients who even show the neuropathology similar to that in Parkinson's disease and have initial response to levodopa treatment, genetic identification of the molecular basis for the disease is still required for defining the early diagnosis and correct treatment.
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
authors: Yang
authors: Y
authors: Yang
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha, 410078, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008, Hunan, People's Republic of China.
authors: Bei-sha
authors: BS
authors: Tang
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China.
authors: Ling
authors: L
authors: Weng
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008, Hunan, People's Republic of China.
authors: Nan
authors: N
authors: Li
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha, 410078, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008, Hunan, People's Republic of China.
authors: Lu
authors: L
authors: Shen
authors: Department of Neurology, Huashan Hospital, Fudan University, 12 Wulumuqi Middle Road, 200040, Shanghai, People's Republic of China.
authors: Jian
authors: J
authors: Wang
authors: PET Center, Huashan Hospital, Fudan University, 12 Wulumuqi Middle Road, 200040, Shanghai, People's Republic of China.
authors: Chuan-tao
authors: CT
authors: Zuo
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008, Hunan, People's Republic of China.
authors: Xin-xiang
authors: XX
authors: Yan
authors: State Key Laboratory of Medical Genetics, Changsha, 410078, Hunan, People's Republic of China.
authors: Kun
authors: K
authors: Xia
authors: Department of Neurology, Xiangya Hospital, Central South University, Changsha, 410008, Hunan, People's Republic of China; State Key Laboratory of Medical Genetics, Changsha, 410078, Hunan, People's Republic of China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, 410008, Hunan, People's Republic of China; Neurodegenerative Disorders Research Center, Central South University, Changsha, 410008, Hunan, People's Republic of China.
authors: Ji-feng
authors: JF
authors: Guo
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D001921:Brain / Q000473:pathology; D059472:Exome / Q000235:genetics; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics; D059906:Neuroimaging; D020734:Parkinsonian Disorders / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D049268:Positron-Emission Tomography; D016875:tau Proteins / Q000235:genetics
chemical_list: C054369:MAPT protein, human; D016875:tau Proteins