Clinical and Genetic Aspects in Patients with Idiopathic Parkinson Disease (original) (raw)
Related papers
Journal of Neurology, Neurosurgery & Psychiatry, 2001
Objective-An Ala53Thr mutation of the-synuclein gene has been recently identified as a rare cause of autosomal Parkinson's disease (PD). The clinical characteristics of 15 patients with PD living in Greece with the Ala53Thr-synuclein mutation (-synPD) were compared with patients with sporadic Parkinson's disease (sPD). Methods-An investigator, blind to the results of the genetic analysis, examined 15 patients with-synPD and 52 consecutive patients with sPD. Demographic data, age at onset of the illness, modality of presentation, and duration of PD were collected. The unified Parkinson's disease rating scale, the Hoehn and Yahr scale, and the Schwab-England scale were completed. The patients with-synPD were matched for duration of disease with 32 of the 52 patients with sporadic PD (MsPD group). Results-Patients with the-synuclein mutation were significantly younger (mean 7.6 years), showed the first sign of the disease significantly earlier in life (mean 10.8 years), and had significantly longer duration of the disease compared with patients with sPD. Tremor at onset of the disease was present in only one (6.7%) of the patients with-synPD, whereas it was present in 32 (61.5%) of the patients with sPD (p=0.0006). During the course of the disease one patient in the-synPD group went on to develop tremor compared with six patients in the sPD group. Rigidity, bradykinesia, postural instability, orthostatic hypotension, intellectual impairment, depression, complications of therapy, and clinical severity of the disease at the time of examination did not diVer significantly between patients with-synPD and those with sPD, or between patients with-synPD and the MsPD group. Conclusion-The younger age at onset of the illness, the much lower prevalence of tremor, and the longer duration of the disease characterise the clinical phenotype in this sample of patients with-synPD. The other symptoms and signs of the illness did not seem to diVerentiate the patients with-synPD from those with sPD.
-Synuclein and Parkinson disease susceptibility
Neurology, 2007
Background: Mutations in the ␣-synuclein (SNCA) gene have been shown to be responsible for a rare familial form of Parkinson disease (PD). Furthermore, polymorphic variants in multiple regions of the gene have been associated with susceptibility to idiopathic PD in different populations.
Background: Background: Parkinson's disease (PD) is a disabling neurological disorder characterized by progressive degeneration of dopaminergic neurons. Mutations analysis within the α-synuclein gene (SNCA) on chromosome 4 has been reported in the last decade. Objective: Objective: To elucidate the possible role of SNCA gene in the pathogenesis of PD in Indian population specifically in north Karnataka. Materials and Methods: Materials and Methods: The study subjects included 100 clinically diagnosed PD patients and 100 ethnically matched healthy controls. Isolated deoxyribonucleic acid (DNA) samples from both were subjected to exon-specific polymerase chain reaction (PCR) amplification and amplicons were subjected to capillary-based direct DNA sequencing. Result: Result: No mutations were observed in SNCA gene of PD samples in comparison with control samples. Conclusion: Conclusion: These findings support the hypothesis that the SNCA gene mutations might be population specific and may not be playing role in causing PD in all the populations.
Archives of Neurology, 1998
A substitution at nucleotide 209 (G209A) mutation in the ␣-synuclein gene is responsible for familial Parkinson disease (PD) in the US population. Design: Polymerase chain reaction-based DNA analysis of consecutive patients with PD and family history of PD. Setting: A university-affiliated movement disorder clinic and a Veterans Affairs clinical research laboratory. Patients: Forty-four patients with PD and family history of PD and 29 patients with sporadic PD, all with no known Greek and/or Italian background. Results: None of the DNA samples showed the G209A mutation. Conclusion: The G209A mutation is rare in US patients with familial PD.
Parkinson Hastalığı ve Baş Ağrısı
Türk Nöroloi Dergisi, 2014
The etiology and frequency of headache complaint were examined in patients diagnosed with idiopathic Parkinson's disease. Materials and Methods: 60 patients diagnosed with idiopathic Parkinson's disease in policlinic and a healthy control group of 100 people of similar age and sex were included in the study. Results: Headache was found in 26 of the patients (43.3%) with idiopathic Parkinson's disease. There was not a significant difference between the ages of patients with and without headache. The duration of the disease was significantly longer in the patients without headache when compared to those with headache. Conclusion: The frequency of headache in patients with idiopathic Parkinson's disease is not higher than the healthy population.
Prevalence of Parkinson?s disease and other types of Parkinsonism
Journal of Neurology, 2004
Parkinson's disease (PD) is a common neurodegenerative disorder in older people. The prevalence of PD varies among ethnic and geographic groups around the world. In this study, we aimed to estimate the prevalence of PD and other types of Parkinsonism in persons aged 40yearsintheAlKhargadistrictofEgypt.ThestudywasconductedonthetotalpopulationofAlKhargadistrict(62,583persons)between2005and2009andinvolvedthreeneurologyspecialistsand15femalesocialworkersundertakingadoor−to−doorsurvey.SuspectedcasesofParkinsonismweresubjectedtometiculousclinicalandneurologicalexaminationbythreeneurologystaffmembersfromAssiutUniversityhospitalwhocarriedouttheirexaminationsseparately.Ofthetotalpopulationsurveyed,15,482personswereaged40 years in the Al Kharga district of Egypt. The study was conducted on the total population of Al Kharga district (62,583 persons) between 2005 and 2009 and involved three neurology specialists and 15 female social workers undertaking a door-to-door survey. Suspected cases of Parkinsonism were subjected to meticulous clinical and neurological examination by three neurology staff members from Assiut University hospital who carried out their examinations separately. Of the total population surveyed, 15,482 persons were aged 40yearsintheAlKhargadistrictofEgypt.ThestudywasconductedonthetotalpopulationofAlKhargadistrict(62,583persons)between2005and2009andinvolvedthreeneurologyspecialistsand15femalesocialworkersundertakingadoor−to−doorsurvey.SuspectedcasesofParkinsonismweresubjectedtometiculousclinicalandneurologicalexaminationbythreeneurologystaffmembersfromAssiutUniversityhospitalwhocarriedouttheirexaminationsseparately.Ofthetotalpopulationsurveyed,15,482personswereaged40 years and 49 of these were identified as having Parkinsonism (prevalence: 316.50 per 100,000 people [95% confidence interval {CI} 240.21-404.98]). Of the 49, 33 fulfilled the diagnostic criteria for PD, giving a prevalence rate of 213.15/100,000 (95% CI 150.51-285.80) while 14 fulfilled those for vascular Parkinsonism, with a prevalence rate of 90.43/100,000 (95% CI 49.60-137.78). Postencephalitic and unspecified Parkinsonism each had a prevalence rate of 6.46/100,000. The prevalence of Parkinsonism was found to increase steadily with age, and the prevalence of all types of Parkinsonism was statistically higher in rural compared with urban communities, with no significant difference between men and women.
Parkinsons-Disease-in-the-Very-Old-Clinicopathological-Observations.pdf
Journal of Neuroscience and Neuropsychology, 2017
Background:The incidence of Parkinson syndrome (PS) increases dramatically after age 80 years. As the number of the very old (>80 years) is rising in the population, the number of PS cases would increase. In the general population the most common variant of PS is the Parkinson's disease (PD). PD is characterized by marked loss of substantia nigra neurons and Lewy Body (LB) inclusions. All the pathological variants of PS in the elderly however remain unknown. The objective of this study was to determine the frequency of different PS variants and their course in the elderly individuals. Results:We studied 30 PS cases that had onset age >80 years and came to autopsy between 1968 and 2015. Autopsy study was performed by certified neuropathologists. 21 of 30 cases had PD as the only movement disorder, two more patients had PD plus another movement disorder. Detailed analysis of 21 PD only cases revealed that mode of onset was the upper limb tremor, which is similar to the PD cases of all ages. They all improved on levodopa, as do most PD patients. Compared to younger onset PD cases, there was higher incidence of stroke and dementia in this age group. But stroke was not the cause of PD. The motor disability was more rapid than in the younger onset PD cases. We recommend that all elderly persons that have a clinical diagnosis of PS or PD should be treated with levodopa.
Genetics of Parkinson’s disease in the Polish population
Neurologia i Neurochirurgia Polska
Introduction. Genetic forms of Parkinson's disease (PD) often cluster in different ethnic groups and may present with recognisable unique clinical manifestations. Our aim was to summarise the current state of knowledge regarding the genetic causes of PD and describe the first Polish patient with SNCA duplication. Methodology. We searched the electronic database, PubMed, for studies between January 1995 and June 2020 that evaluated genetics in Polish patients with PD, using the search terms 'Parkinson's disease, 'Polish' , 'genetics' , 'mutations' , and 'variants'. Results. In total, 73 publications were included in the review; 11 genes responsible for monogenic forms and 19 risk factor genes have been analysed in the Polish population. Pathogenic variants were reported in four monogenic genes (LRRK2, PRKN, PINK1, and SNCA). Eight genes were associated with PD risk in the Polish population (GBA, TFAM, NFE2L2, MMP12, HLA-DRA, COMT, MAOB, and DBH). Multiplex ligation-dependent probe amplification and Sanger sequencing in PRKN, PINK1, DJ1, LRRK2, and SNCA revealed SNCA duplication in a 43-year-old Polish patient with PD examined by movement disorder specialists. Conclusion. Only a limited number of positive results have been reported in genes previously associated with PD in the Polish population. In the era of personalised medicine, it is important to report on genetic findings in specific populations.
Clinical Study of Thirty Patients with Parkinson Disease and Associated Pathology
Journal of Medical Research and Surgery, 2021
We have clinically examined thirty patients with age ranging between 39 to 85 years old. We observed resting Tremor and Brakykinesia in 100% of patients examined and a family history of Parkinson Disease (PD) in 12%. We have found the following comorbidities: arterial hypertension 21%, diabetes 21%, language disorders 21%, neurobehavioral dysfunctions: 12%, neurosensory disorders, (hypoacusia) 12%, dizziness 8%, respiratory diseases 8%, constipation 8% and sleep disorders 8%. The following risks factors environmental conditions, stress, toxics, and previous cerebrovascular accident (1%) were observed. Parkinson disease motor and non-motor symptoms are discussed in details. PD can be associated with nneurobehavioral disorders (depression, anxiety), cognitive impairment (senile dementia), autonomic dysfunction, stress and aggressivity. PD ethiopathogenesis remains to be elucidated and has been connected to genetic, environmental and immunologic conditions. A differential diagnosis of PD with atypical parkisonian syndromes, such as progressive supranuclear palsy, multiple system atrophy, Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD) is included.