scholarly journals Cognitive alterations in juvenile Parkinson´s disease caused by the C212Y mutation in the Parkin gene.

2010 ◽  
Vol 3 (2) ◽  
pp. 55-62
Author(s):  
Sonia Moreno ◽  
Omar Buriticá ◽  
Alejandro Franco ◽  
Nicolás Pineda ◽  
William Arias ◽  
...  
Keyword(s):  
Late Onset ◽  
Phenotypic Expression ◽  
Neuropsychological Evaluation ◽  
Parkin Gene ◽  
Memory And Attention ◽  
Slowing Down ◽  
Functional Involvement ◽  
Slow Evolution ◽  
State Examination ◽  
Cognitive Alterations

In Antioquia, Colombia, four families have been reported with juvenile Parkinson´s disease and carrying the C212Y mutation in the Parkin gene. Many cognitive alterations associated with idiopathic, late-onset Parkinson´s disease have been described; however, little attention has been paid to the description of neuropsychological profiles in families carrying mutations in genes associated with juvenile Parkinson´s disease. For this study we selected a group of ten homozygous carriers of Parkin mutation C212Y with the clinical and a group of molecular diagnosis of Parkinson´s disease, and ten healthy relatives as controls. The neuropsychological evaluation revealed statistically significant differences between the two groups (p < 0.05) in Minimental State Examination and in tests evaluating working memory and attention in which prolonged execution times and marked slowing down of information processing were observed. We suggest that the observed alterations could be considered as neuropsychological features of patients with the C212Y mutation in the Parkin gene, the phenotypic expression of which seems to be associated in this population with slow evolution, mild cognitive impairment and functional involvement.

A novel P159L mutation in the Parkin gene related to autosomal dominantly inherited late onset parkinsonism and protein aggregation

2004 ◽  
Vol 31 (S 1) ◽  
Author(s):  
R Krüger ◽  
FP Marx ◽  
D Berg ◽  
C Holzmann ◽  
T Müller ◽  
...  
Keyword(s):  
Protein Aggregation ◽  
Late Onset ◽  
Parkin Gene

scholarly journals Late Onset Alzheimer Dementia in Patients with Genotype E3/E4: A Case Report

2021 ◽  
Vol 9 (C) ◽  
pp. 5-9
Author(s):  
Anak Agung Ayu Putri Laksmidewi ◽  
Chiquita Putri Vania Rau
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Case Report ◽  
Mini Mental State Examination ◽  
Late Onset ◽  
Apoe Genotype ◽  
Time Orientation ◽  
Alzheimer Dementia ◽  
The Family ◽  
State Examination

BACKGROUND: Dementia is one of the leading causes of disability and dependence in elderly worldwide. Epidemiological statistics indicate that data show that at about 60–80%, Alzheimer’s is the most common type of dementia. Alzheimer’s is also the third-most prominent cause of death in elderly. CASE REPORT: A 72-years-old male patient, complained by the family often forgets about things that have just been done for 3 years ago. According to the family, patient also often discussing the same things repeatedly. Patients tend not to have the initiative to start his daily activities. The family admitted that patient also became often angry and felt suspicious for the last 2 years. From the mini mental state examination showed disturbances in time orientation and recall; from Montreal Cognitive Assessment Ina found disturbances in visuospatial, fluency, abstraction, delayed memory, and time orientation; accompanied by activities of daily living (ADL) and instrumental ADL disorders. Patient also performed a molecular examination of the apolipoprotein E (APOE) genotype and the genotype E3/E4 was detected. CONCLUSION: The function of the APOE gene, in particular APOE4, is the most emphasized genetic relationship in late onset Alzheimer’s disease. It is proposed that blocking the action of APOE4 can delay or stop Alzheimer’s disease progression.

scholarly journals Progressive rod-cone degeneration (PRCD) in selected dog breeds and variability in its phenotypic expression

2011 ◽  
Vol 56 (No. 5) ◽  
pp. 243-247 ◽  
Author(s):  
J. Dostal ◽  
A. Hrdlicova ◽  
P. Horak
Keyword(s):  
Centromeric Region ◽  
Late Onset ◽  
Phenotypic Expression ◽  
Modifier Gene ◽  
Chromosome 9 ◽  
Causative Mutation ◽  
Photoreceptor Degeneration ◽  
Cocker Spaniel ◽  
Canine Chromosome ◽  
Portuguese Water

Progressive rod-cone degeneration (PRCD) is a late onset autosomal photoreceptor degeneration found in canines. PRCD in canines is homologous to one form of retinitis pigmentosa (RP) found in humans and displays phenotypic similarity as well as having the identical causative mutation. The PRCD gene was mapped to the centromeric region of canine chromosome 9 (CFA9). We report here a population study of 699 dogs of the following breeds and the following frequencies of the disease-causing mutation: American Cocker Spaniel (0.09), English Cocker Spaniel (0.34), English Springer Spaniel (0.00), Welsh Springer Spaniel (0.00), Flat Coated Retriever (0.00), Golden Retriever (0.00), Chesapeake Bay Retriever (0.14), Nova Scotia Duck Tolling Retriever (0.44), Labrador Retriever (0.07), Poodle Toy (0.45), Poodle Miniature (0.20), Poodle Medium (0.05), Poodle Standard (0.00), Portuguese Water Dog (0.33), Chinese Crested Dog (0.02), Shipperke (0.06), and Australian Cattle Dog (0.00). The disease results in complete blindness in the affected individual in almost every case. The time of onset and disease progression varies between dog breeds as well as between individuals. A modifier gene is likely to segregate in genomic proximity to the PRCD gene and may influence phenotypic expression.

Patients in Australian Memory Clinics: baseline characteristics and predictors of decline at six months

2011 ◽  
Vol 23 (7) ◽  
pp. 1086-1096 ◽  
Author(s):  
Henry Brodaty ◽  
Michael Woodward ◽  
Karyn Boundy ◽  
David Ames ◽  
Robert Balshaw
Keyword(s):  
Late Onset ◽  
Marked Change ◽  
Rate Of Change ◽  
Memory Clinics ◽  
Baseline Characteristics ◽  
The Difference ◽  
And Behavior ◽  
Assessment Scales ◽  
State Examination

ABSTRACTBackground: The Prospective Research In MEmory clinics (PRIME) is a three-year non-prescriptive, observational study identifying and measuring relationships among predictor and outcome variables.Methods: Patients from nine memory clinics, diagnosed with dementia or mild cognitive impairment (MCI), living in the community with <40 hours/week nursing care were divided into diagnostic groups defined at baseline as Alzheimer's disease (AD) early or late onset, frontotemporal dementia (FTD), vascular dementia (VaD), mixed (AD and VaD) and other dementia. To achieve outcome measures, baseline and change over six months in all measures by diagnostic group, and predictors of change at six months were examined.Results: Of the 970 patients enrolled, 967 were eligible for analysis. The most common disorder was AD (late onset) accounting for 46.5% of this population. Patients had an overall slight worsening on all assessment scales over the six-month period. Patients with FTD had a more marked change (decline) in cognition, function and behavior over six months compared to other diagnostic groups. However, in the regression analysis the difference was not significant between groups. Predictors of decline in Mini-Mental State Examination (MMSE) scores were not robust at six months, and longer follow-up is required. Patients with FTD were more likely to be prescribed psychotropics.Conclusion: The PRIME study is continuing and will provide important data on predictors of decline along with differences between diagnosis groups on the rate of change.

scholarly journals Cerebrospinal Fluid Apolipoprotein E Levels in Delirium

2017 ◽  
Vol 7 (2) ◽  
pp. 240-248 ◽  
Author(s):  
Gideon A. Caplan ◽  
JIan Tai ◽  
Fazrul Mohd Hanizan ◽  
Catherine L. McVeigh ◽  
Mark A. Hill ◽  
...  
Keyword(s):  
Risk Factors ◽  
Cerebrospinal Fluid ◽  
Apolipoprotein E ◽  
Late Onset ◽  
The Elderly ◽  
Confusion Assessment Method ◽  
Assessment Method ◽  
Apolipoprotein A1 ◽  
Ε4 Allele ◽  
State Examination

Background/Aims: Delirium and the apolipoprotein E ε4 allele are risk factors for late-onset Alzheimer disease (LOAD), but the connection is unclear. We looked for an association. Methods: Inpatients with delirium (n = 18) were compared with LOAD outpatients (n = 19), assaying blood and cerebrospinal fluid (CSF) using multiplex ELISA. Results: The patients with delirium had a higher Confusion Assessment Method (CAM) score (5.6 ± 1.2 vs. 0.0 ± 0.0; p < 0.001) and Delirium Index (13.1 ± 4.0 vs. 2.9 ± 1.2; p = 0.001) but a lower Mini-Mental State Examination (MMSE) score (14.3 ± 6.8 vs. 20.8 ± 4.6; p = 0.003). There was a reduction in absolute CSF apolipoprotein E level during delirium (median [interquartile range]: 9.55 μg/mL [5.65–15.05] vs. 16.86 μg/mL [14.82–20.88]; p = 0.016) but no differences in apolipoprotein A1, B, C3, H, and J. There were no differences in blood apolipoprotein levels, and no correlations between blood and CSF apolipoprotein levels. CSF apolipoprotein E correlated negatively with the CAM score (r = –0.354; p = 0.034) and Delirium Index (r = –0.341; p = 0.042) but not with the Acute Physiology and Chronic Health Evaluation (APACHE) index, or the MMSE or Informant Questionnaire on Cognitive Decline in the Elderly (IQCODE). Conclusion: Reduced CSF apolipoprotein E levels during delirium may be a mechanistic link between two important risk factors for LOAD.

scholarly journals Absence of dementia in late-onset schizophrenia: a one year follow-up of a Brazilian case series

2006 ◽  
Vol 64 (4) ◽  
pp. 946-949 ◽  
Author(s):  
Jerson Laks ◽  
Leonardo F. Fontenelle ◽  
Adriana Chalita ◽  
Mauro V. Mendlowicz
Keyword(s):  
Activities Of Daily Living ◽  
Daily Living ◽  
Negative Symptoms ◽  
Late Onset ◽  
Case Series ◽  
Developed Countries ◽  
End Point ◽  
One Year ◽  
State Examination

BACKGROUND: Cognitive deficits of late-onset schizophrenia (LOS) patients have been reported as stable, although some prospective studies show that a sub-group develop a significant cognitive decline. Data on LOS from developing countries are scarce. OBJECTIVE: To evaluate the cognitive performance of Brazilian patients with LOS over the course of one year. METHOD: Thirteen LOS patients were evaluated at baseline and after one year with the Mini-Mental State Examination (MMSE), the CAMCOG, the Positive and Negative Symptoms Scale, the Pfeffer’s Activities of Daily Living (ADL), and the Neuropsychiatric Inventory (NPI). RESULTS: Cognition and activities of daily living remained stable over the course of one year [baseline MMSE= 21.31 (4.87) and CAMCOG=80.31 (16.68); end-point MMSE=20.77 (3.86) and CAMCOG=82.92 (14.42) (Z=-0.831; p=0.40); baseline ADL=4.31 (5.65); end-point ADL= 5.92 (3.86) (Z=-0.831; p=0.40)]; end-point NPI=10.54 (10.69) (Z=-0.737; p=0.46]. CONCLUSION: Like patients from developed countries, Brazilian patients with LOS do not seem develop dementia, at least over the course of one year.

scholarly journals Effects of Cognitive Versus Mind-Motor Training on Cognition and Functional Skills in the Community-Dwelling Older Adults

2020 ◽  
pp. 025371762095751
Author(s):  
Shruti Sharma ◽  
Gandhi Karunanithi Balaji ◽  
Sahana A ◽  
Suruliraj Karthikbabu
Keyword(s):  
Older Adults ◽  
Berg Balance Scale ◽  
Community Dwelling ◽  
Motor Training ◽  
Functional Skills ◽  
Memory And Attention ◽  
General Linear Model Analysis ◽  
Community Dwelling Older Adults ◽  
State Examination ◽  
Stepping Exercise

Background: There is a decline in cognitive and functional skills in older adults. The objective of this study was to compare the effects of cognitive and mind-motor training (MMT) on cognition and functional skills in a community-dwelling sample of older adults. Methods: In this observer-blinded randomized clinical trial, 40 older adults with medical stability, ability to comprehend and respond to simple verbal instructions, no diagnosed psychological disorders, absence of severe visual and hearing problems, the capacity to walk independently, and a score of more than 46 in Berg Balance Scale were included. They were randomly allocated into cognitive or MMT groups. Cognitive training (CT) was practiced with activities for memory and attention, using paper–pencil tasks. MMT was practiced using a simple, indoor based square-stepping exercise. They practiced one-hour of training per day, three days a week, for eight weeks. Results: General linear model analysis showed that the time by groups was not statistically significant. The mean (standard deviation) scores in General Practitioner Assessment of Cognition Scale and Hindi Mental State Examination improved significantly (P < 0.001) following MMT [1.75 (1.29); 2.4 (1.34)] and CT [1.5 (1.36); 2.7 (0.99)]. The functional skills measured using Lawton Instrumental Activities of Daily Living Scale revealed beneficial changes for both the groups. None of the outcomes were statistically significant between the groups (P > 0.05). Conclusion: Both cognitive and MMTs showed similar practice effects on cognition and functional skills in community-dwelling older adults.

Neuropsychological evaluation of late-onset post-radiotherapy encephalopathy: a comparison with vascular dementia

2005 ◽  
Vol 229-230 ◽  
pp. 195-200 ◽  
Author(s):  
Rita Moretti ◽  
Paola Torre ◽  
Rodolfo M. Antonello ◽  
Tatiana Cattaruzza ◽  
Giuseppe Cazzato ◽  
...  
Keyword(s):  
Vascular Dementia ◽  
Late Onset ◽  
Neuropsychological Evaluation

scholarly journals Natural selection increases mutational robustness in complex diseases: Mendelian evidence from early versus late onset common diseases

2013 ◽  
Author(s):  
Bora E Baysal
Keyword(s):  
Natural Selection ◽  
Early Onset ◽  
Late Onset ◽  
Disease Onset ◽  
Phenotypic Expression ◽  
Complex Diseases ◽  
World Health ◽  
Common Disease ◽  
Common Diseases ◽  
Age Related

Background. Natural selection operates on genetically influenced phenotypic variations that confer differential survival or reproductive advantages. Common diseases are frequently associated with increased mortality and disability and complex heritable factors play an important role in their pathogenesis. Hence, common diseases should trigger the process of natural selection with subsequent population genetic response. However, empirical impact of natural selection on genetics of complex diseases is poorly understood. In this paper, I hypothesize that negative selection of diseased individuals leads to systemic genetic differences between common diseases that primarily occur before or during the reproductive years (early onset) and those that occur after the reproductive years (late onset). Methods. To test this hypothesis, a comprehensive literature survey of highly penetrant (80% or more) nonpleiotropic, nonsyndromic susceptibility genes (hereafter defined as Mendelian phenocopies) was completed for early versus late onset common diseases, organized using the World Health Organization (WHO) ICD-10 classification scheme. An average age at sporadic disease onset of 30 years was selected for dividing early versus late onset common diseases. Results. Mendelian phenocopies were identified for 16 primarily late onset common diseases from 9 distinct WHO diagnostic categories. Late onset common diseases with Mendelian phenocopies include papillary renal carcinoma, obesity, Alzheimer disease, Parkinson disease, frontotemporal dementia, amyotrophic lateral sclerosis, primary open angle glaucoma, age-related hearing loss, coronary artery disease, stroke, pancreatitis, thrombotic thrombocytopenic purpura, systemic lupus erythematosus, inclusion body myositis, Paget's disease of bone and focal segmental glomerulosclerosis (steroid resistant). In contrast, no Mendelian phenocopy was found for any primarily early onset common disease (p<5.8x10-4). Thus, highly predictive rare variants are present for a subset of late onset common diseases, but not for early onset common diseases. Discussion. These findings suggest that genetic architecture of early onset common diseases is more robust against the phenotypic expression of highly penetrant predisposing mutations than is the case for late onset common diseases. The primary candidate for increased genetic robustness in early onset common diseases is proposed to be natural selection.

Sign in / Sign up

Export Citation Format

Share Document