Clinical features of early onset Parkinson's disease, PET gene expression and gene

Upload time:2017-02-23 Browse:

Author: Mao Wei Xu Erhe Zhang Hui Chen Biao
Abstract: Objective To investigate the clinical features, changes of dopamine function and gene mutation in patients with early-onset Parkinson's disease. Methods the hospital treated 10 cases of early-onset Parkinson disease patients (male and female 5 cases), the average age of onset (31.4 + 8) years old, the average duration of (3 + 0.8) years, no family history of all patients with clinical data, dopamine transporter PET imaging and gene detection results were retrospectively analyzed. Results 10 cases of limb involvement were slow and increased muscle tension, 6 cases of static tremor, 5 cases of foot dystonia, 4 cases of 2 cases of active tendon reflexes, tendon reflexes, 4 cases with daytime symptom fluctuation. 3 cases with depression. 9 cases of good response to levodopa and benserazide. 8 cases of brain dopamine transporter PET imaging (11C-CFT DATPET) examination, the onset of in the contralateral putamen of the posterior lobe of the lower DAT, in the case of bilateral putamen in the posterior part of the DAT decreased in 7 cases, in which the onset of contralateral DAT decreased more significantly. 1 cases of parkin gene deletion of exon 3 and exon 2 of PINK1 gene also had a mutation in exon 2 of gene. Homozygous mutation was found in exon 4 of parkin gene in 1 cases. Heterozygous mutation occurred in 3 cases of parkin gene exon 3 or 4. Conclusion early onset Parkinson's disease has a unique clinical features, the changes of striatal dopamine function, parkin gene and PINK1 gene associated with the incidence of.
Key words: early-onset Parkinson's disease; dopamine transporter PET imaging; Parkin gene; PINK1 gene
CLC number: R742.5 document code: A article number: 1006-2963 (2017)
The clinical, DAT PET scan and genetic characteristics of early-onset Parkinson s disease MAO Wei* ", XU Erhe, ZHANG Hui, CHEN Biao.*Department, of Neurology, Xuanwu Hospital, Capital Medical University, Beijing 10053, China
Corresponding author: MAO Wei, Email: mmaowei729@qq.com
ABSTRACT: Objective To investigate the clinical characteristics, changes of dopamine function and genetic mutation in patients with early-onset Parkinson's disease, defined as parkinsonism starting before age 50 years. Methods Clinical data, 11C-CFT DAT PET scan and genetic mutationof EOPD patients were analyzed 10 sporadic retrospectively. The average age of onset was (31.4 + 8) years old. The average disease duration was (3 + 0.8) years.Results All of the patients had rigidity and bradykinesia patients with resting, 6 tremor, 5 patients with foot dystonia patients with hyperactive tendon, 4 reflex, 4 patients with diurnal fluctuation of the symptoms, 3 patients with depression, and remarkable effect of levodopa were found in 9 patie Nts. 11C-CFT DAT PET imaging was performed in There was a significant 8 patients. reduction of [11C] CFT uptake in posterior of putamen. The reductions occurred on both the contralateral and ipsilateral side in 7 patients localized predominantly, on the contralateral in One patient showed a 4 patients. significant decrease in the contralateral posterior of putamen. In case 3, the deletion mutation was found in exon 3 and exon 4 of parkin gene, exon PINK1 gene presented a 4 of repeat mutation. Homozygous mutations occurred in exon Parkin gene in 4 of case 8 Heterozygous mutations occurred in exon 3 or 4 of parkin gene in Conclusions EOPD has some 4 patients. unique clinical features and changes of dopamine function in striatum. Mutations In parkin gene PINK1 are related the pathogenesis to of and gene EOPD.
Keywords: early-onset Parkinson s disease; DAT PET scan; Parkin gene; PINK1 gene
Parkinson's disease (Parkinsondisease) is a neurodegenerative disease characterized by progressive loss of dopaminergic neurons in the substantia nigra and extensive deposition of the body of the, with approximately 65 of the population aged over the age of 1%~2% in the world (PD). Early PD (early-onset Parkinson disease, EOPD) generally refers to the onset of PD[1] before the age of 50. In addition to the main clinical features with bradykinesia, tremor and muscular tension increased higher PD, EOPD in the etiology, pathology, pathogenesis, clinical manifestations, disease progression and drug treatment response were unique. The clinical features of 10 patients with EOPD were analyzed retrospectively.
1 materials and methods
1.1 - 2016-05 2015-08 were collected from the Department of Neurology of Xuanwu Hospital of Capital Medical University, 10 patients with EOPD, including male and female 5 cases, age 20~46 years old, the average (34.4 + 7.8) years; age 18~43 years old, the average (31.4 + 8) years; the course of 2~4 years, the average (3 + 0.8) years. All patients met the PD diagnostic criteria of the International Association for the advancement of motor disorders, diagnosed as clinically diagnosed with PD or likely to be PD, and the age of onset was less than 50 years. All patients had no family history.
1.2 methods of analysis of 10 cases of EOPD patients with clinical manifestations, unified Parkinson's Disease Rating Scale (UPDRS), review of non motor symptoms rating scale (NMSS), Hamilton Depression Scale (HAMD), REM sleep behavior disorder questionnaire (RBDQ-HK), Mini Mental State Examination (MMSE), Montreal cognitive assessment scale the results of the assessment table (MoCA) and olfactory test, routine laboratory and imaging examination, brain dopamine transporters imaging and gene detection results, as well as hospitalization and follow-up (follow-up date as of August 2016). Methods: parkin was extracted from samples of the nuclear cells DNA, PINK1, DJ-1, park, SNCA, ATP13A2, LPA-39 gene fragment size variation detection (MLPA) and