Genetic Insights into Early-onset Parkinson’s Disease

US Neurology ◽  
2010 ◽  
Vol 06 (01) ◽  
pp. 41
Author(s):  
Roy N Alcalay ◽  
Cheryl Waters ◽  
◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Leucine Rich Repeat ◽  
Strong Family History ◽  
Early Onset Parkinson’S Disease

Early-onset Parkinson’s disease (EOPD) is defined as disease onset before 40 or 50 years of age. The clinical characteristics of EOPD are very similar to those of late-onset PD, but dystonia is more often a presenting symptom, dementia is rare, and disease progression may be slower. Mutations in several genes have been described in cases with EOPD, often with strong family history, including mutations in α-synuclein (SNCA),DJ-1, PTEN-induced kinase-1 (PINK-1), andATP13A2. However, the most common mutations identified in EOPD are in Parkin (PRKN), leucine-rich repeat kinase 2 (LRRK2), and glucocerebrosidase (GBA). With the exception ofSNCAandATP13A2carriers, mutation carriers are often indistinguishable from non-carriers. Large series of EOPD cases that are not ascertained by family history estimate mutation frequency at 4–16%. Given that the frequency of positive family history is much higher, we believe that many genetic risk factors are yet to be discovered.

scholarly journals Genetic Insights into Early-onset Parkinson's Disease

2010 ◽  
Vol 5 (1) ◽  
pp. 30
Author(s):  
Roy N Alcalay ◽  
Cheryl Waters ◽  
◽  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Genetic Risk ◽  
Early Onset ◽  
Late Onset ◽  
Positive Family History ◽  
Disease Onset ◽  
Strong Family History ◽  
Early Onset Parkinson’S Disease

Early-onset Parkinson's disease (EOPD) is defined as disease onset before 40 or 50 years of age. The clinical characteristics of EOPD are very similar to those of late-onset PD, but dystonia is more often a presenting symptom, dementia is rare and disease progression may be slower. Mutations in several genes have been described in cases with EOPD, often with strong family history, including mutations in α-synuclein (SNCA),DJ-1,PTEN-induced kinase-1 (PINK-1) andATP13A2. However, the most common mutations identified in EOPD are in Parkin (PRKN), leucinerich repeat kinase 2 (LRRK2) and glucocerebrosidase (GBA). With the exception ofSNCAandATP13A2carriers, mutation carriers are often indistinguishable from non-carriers. Large series of EOPD cases that are not ascertained by family history estimate mutation frequency at 4–16%. Given that the frequency of positive family history is much higher, we believe that many genetic risk factors are yet to be discovered.

PINK1 polymorphism IVS1−7 A→G, exposure to environmental risk factors and anticipation of disease onset in Brazilian patients with early-onset Parkinson's Disease

2010 ◽  
Vol 469 (1) ◽  
pp. 155-158 ◽  
Author(s):  
Clecio Godeiro ◽  
Patricia M. de Carvalho Aguiar ◽  
Andre C. Felício ◽  
Orlando G.P. Barsottini ◽  
Sonia M.A. Silva ◽  
...  
Keyword(s):  
Risk Factors ◽  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Environmental Risk ◽  
Early Onset ◽  
Disease Onset ◽  
Environmental Risk Factors ◽  
Early Onset Parkinson’S Disease

scholarly journals Early-onset Parkinson's disease and depression

2007 ◽  
Vol 65 (1) ◽  
pp. 5-10 ◽  
Author(s):  
Délcio Bertucci Filho ◽  
Hélio A.G. Teive ◽  
Lineu C. Werneck
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Risk Factor ◽  
Parkinson Disease ◽  
Early Onset ◽  
Clinical Characteristics ◽  
Late Onset ◽  
Mild Depression ◽  
Moderate Depression ◽  
Early Onset Parkinson’S Disease

Patients with Parkinson’s disease (PD) in whom symptoms start before the age of 45 years (EOPD) present different clinical characteristics from those with the late-onset form of the disease. The incidence of depression is believed to be greater in patients with EOPD than with the late-onset form of the disease, although there is no risk factor or marker for depression in patients with PD. We studied 45 patients with EOPD to define the frequency of depression and to identify possible differences between the groups with and without depression. Depression was diagnosed in 16 (35.5%) of the patients, a higher incidence than in the population at large but similar to the figure for late-onset Parkinson disease; 8 (50%) of the patients had mild depression, 4 (25%) moderate depression and 4 (25%) were in remission. There was no relationship between depression and any of the clinical characteristics of the disease, although the EOPD patients with depression presented earlier levodopa-related complications and were more affected on the Hoehn-Yahr, UPDRS and Schwab-England scales.

Mild Cognitive Impairment in Patients with Early-Onset Parkinson's Disease

2016 ◽  
Vol 42 (1-2) ◽  
pp. 17-30 ◽  
Author(s):  
Ana Natalia Seubert-Ravelo ◽  
M. Guillermina Yáñez-Téllez ◽  
Hermelinda Salgado-Ceballos ◽  
Rodrigo Erick Escartín-Pérez ◽  
Gabriel Adolfo Neri-Nani ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Cognitive Impairment ◽  
Executive Function ◽  
Mild Cognitive Impairment ◽  
Early Onset ◽  
Late Onset ◽  
Motor Symptoms ◽  
Visuospatial Abilities ◽  
Early Onset Parkinson’S Disease

Background/Aims: Few studies have described mild cognitive impairment (MCI) and cognitive characteristics in early-onset Parkinson's disease (EOPD). This study describes attention/working memory, language, memory, visuospatial abilities, executive function, and frequency of MCI and dementia in EOPD. Methods: Eighty-one EOPD patients were administered neuropsychological tests and the Beck Depression Inventory. Scores were compared with age/education-appropriate norms and were correlated to years of disease progression and severity of motor symptoms. The frequency of MCI and dementia was determined by the Movement Disorder Society criteria. Results: Thirty-one percent of patients met the MCI criteria, but none had dementia. Commonly affected domains were memory, visuospatial, and executive function. Cognitive dysfunction was not explained by depression or severity of motor symptoms. Conclusion: One third of EOPD patients presented with MCI, which was not associated with the same risk factors as reported in late-onset Parkinson's disease. MCI could have a different prognostic value in EOPD.

scholarly journals Pink1 type of Early Onset Parkinson’s disease(EOPD)in Sudanese patients, 2018

2019 ◽  
Author(s):  
Etedal Ahmed A. Ibrahim ◽  
Samer Abdalaziz Albasher
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Early Onset ◽  
Age Of Onset ◽  
Age At Onset ◽  
Age Group ◽  
Pink1 Gene ◽  
The Mean ◽  
Early Onset Parkinson’S Disease

Background: Parkinson’sDisease (PD) is a neurodegenerative disorder affecting the motor system. It is a chronic progressive disorder which leads to long standing disability. Objective: To study the Presentations and pink1 gene in young Sudanese patients with Parkinson’s disease . Material and Methods: A prospective study was conducted among 31 PD patients at the National center for Neurological Science (NCNS) at Khartoum state. A structured questionnaire was used for data collection. Consisted of personal data, clinical presentations and investigations. RT-PCR technique using G-spin™ kit.  PINK1 gene was detected in most of the samples it was strongly positive. The data was analyzed using SPSS version 21. Results:. The majority of them 19 (61%) were located in age group 41 – 50 years; the mean age of onset was 33.4+_12 yrs.  19 (61%) of the subjects were males and 12 (39%) were female with ratio 1.6:1 (M: F),  20 (64.5%) were married. , 8 (40%) were endogamous married.  5 (62.5%) were second degree and 3 (37.5%) were third degree.  17 (85%) had children, 2 (10%) of the patient had children with Parkinson’s disease. 22 (71%) had duration more than 12 months, 12 (39%) age more than 40 years.  29 (93.5%) had tremor, 27 (87.1%) had rigidity and 23 (74.2%) had bradykinesia. 14 (45%) had positive family history of Parkinson’s disease. PINK1 gene expression was detected in 28 (90.3%) of the patients. no significant associations were found between PINK1 expression with age, gender, age at onset and family history (P> 0.05). Conclusion: This study concludes that early onset PD was common among male than female. The most affected age group was found to be 41 – 50 years and the mean age of onset 33.4yrs. Also, the patterns of the clinical features were generally similar to literature. PINK1 expression was predominant with no significant associations were found between PINK1 expression with age, gender, age at onset and family history.   Key words: , Early onset,, Parkinson’s disease, Pink1 gene, Sudan.

scholarly journals Parkinson's Disease: A Genetic Study

1986 ◽  
Vol 13 (3) ◽  
pp. 248-251 ◽  
Author(s):  
Ma. Elisa Alonso ◽  
Enrique Otero ◽  
Rosalinda D'Regules ◽  
Hector Hugo Figueroa
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Family History ◽  
Genetic Study ◽  
Early Onset ◽  
Positive Family History ◽  
Genetic Load ◽  
Control Group ◽  
The Family ◽  
History Of

ABSTRACT:A sample of 122 patients with Parkinson's Disease was studied for the purpose of investigating if the frequency of relatives affected with Parkinson in this group was higher than in a control group and to see if the genetic load was more important in some of the subtypes of Parkinson described by Barbeau and Pourcher (1982).7 In our 122 patients, we found that 1.7% were post-encephalic parkinsonian, 12.3% were symptomatic cases and 86% of the idiopathic variety. There were 16.1% early onset patients in the idiopathic group and among these we found 23.5% with a positive family history of Parkinson in the first-degree relatives. In 6 cases with the tremor onset form of the disease, the family history was positive and 5 patients, 4.7% had familial essential tremor-related Parkinsonism. Our results support Barbeau's hypothesis7.19 that Parkinson is a heterogeneous disease in which some subtypes (such as early onset Parkinson) have an important genetic subceptibility component.

„Early Onset Parkinson's Disease“: Korrelation zwischen Alter bei Krankheitsbeginn und Verlauf?

2005 ◽  
Vol 32 (S 1) ◽  
Author(s):  
A Janzen ◽  
B Winner ◽  
M Lange ◽  
Z Kohl ◽  
K Pfeifer ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Early Onset ◽  
Early Onset Parkinson’S Disease
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