Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene

2016 ◽  
Vol 51 (3) ◽  
pp. 683-687 ◽  
Author(s):  
Katharina Stoeck ◽  
Marios Nikos Psychogios ◽  
Andreas Ohlenbusch ◽  
Robert Steinfeld ◽  
Jens Schmidt
Keyword(s):  
Missense Mutation ◽  
Early Onset ◽  
Metachromatic Leukodystrophy ◽  
Late Onset ◽  
Arylsulfatase A ◽  
Early Onset Dementia

An arylsulfatase A (ARSA) missense mutation (T274M) causing late-infantile metachromatic leukodystrophy

1993 ◽  
Vol 2 (4) ◽  
pp. 261-267 ◽  
Author(s):  
John S. Harvey ◽  
Paul V. Nelson ◽  
William F. Carey ◽  
Evelyn F. Robertson ◽  
C. Phillip Morris
Keyword(s):  
Missense Mutation ◽  
Metachromatic Leukodystrophy ◽  
Arylsulfatase A

Caregivers' perspectives on the pre-diagnostic period in early onset dementia: a long and winding road

2011 ◽  
Vol 23 (9) ◽  
pp. 1393-1404 ◽  
Author(s):  
Deliane van Vliet ◽  
Marjolein E. de Vugt ◽  
Christian Bakker ◽  
Raymond T. C. M. Koopmans ◽  
Yolande A. L. Pijnenburg ◽  
...  
Keyword(s):  
Social Context ◽  
Health Care Professionals ◽  
Early Onset ◽  
Late Onset ◽  
Structured Interviews ◽  
Early Onset Dementia ◽  
The Social ◽  
The Family ◽  
Constant Comparative Analysis ◽  
Financial Issues

ABSTRACTBackground: Recognizing and diagnosing early onset dementia (EOD) can be complex and often takes longer than for late onset dementia. The objectives of this study are to investigate the barriers to diagnosis and to develop a typology of the diagnosis pathway for EOD caregivers.Methods: Semi-structured interviews with 92 EOD caregivers were analyzed using constant comparative analysis and grounded theory. A conceptual model was formed based on 21 interviews and tested in 29 additional transcripts. The identified categories were quantified in the whole sample.Results: Seven themes emerged: (1) changes in the family member, (2) disrupted family life, (3) misattribution, (4) denial and refusal to seek advice, (5) lack of confirmation from social context, (6) non-responsiveness of a general practitioner (GP), and (7) misdiagnosis. Cognitive and behavioral changes in the person with EOD were common and difficult to understand for caregivers. Marital difficulties, problems with children and work/financial issues were important topics. Confirmation of family members and being aware of problems at work were important for caregivers to notice deficits and/or seek help. Other main issues were a patient's refusal to seek help resulting from denial and inadequate help resulting from misdiagnosis.Conclusion: EOD caregivers experience a long and difficult period before diagnosis. We hypothesize that denial, refusal to seek help, misattribution of symptoms, lack of confirmation from the social context, professionals’ inadequate help and faulty diagnoses prolong the time before diagnosis. These findings underline the need for faster and more adequate help from health-care professionals and provide issues to focus on when supporting caregivers of people with EOD.

scholarly journals Atrial Fibrillation Increases the Risk of Early-Onset Dementia in the General Population: Data from a Population-Based Cohort

2020 ◽  
Vol 9 (11) ◽  
pp. 3665
Author(s):  
Dongmin Kim ◽  
Pil-Sung Yang ◽  
Gregory Y.H. Lip ◽  
Boyoung Joung
Keyword(s):  
Atrial Fibrillation ◽  
Early Onset ◽  
Late Onset ◽  
Population Data ◽  
The Elderly ◽  
Population Based ◽  
Early Onset Dementia ◽  
Increased Risk ◽  
Late Onset Dementia

Atrial fibrillation (AF) is considered a risk factor for dementia, especially in the elderly. However, the association between the two diseases is not well identified in different age subgroups. The association of incident AF with the development of dementia was assessed from 1 January 2005, to 31 December 2013, in 428,262 participants from a longitudinal cohort (the Korea National Health Insurance Service-Health Screening cohort). In total, 10,983 participants were diagnosed with incident AF during the follow-up period. The incidence of dementia was 11.3 and 3.0 per 1000 person-years in the incident-AF and without-AF groups, respectively. After adjustment for clinical variables, the risk of dementia was significantly elevated by incident AF, with a hazard ratio (HR) of 1.98 (95% confidence interval [CI]: 1.80–2.17, p < 0.001), even after censoring for stroke (HR: 1.74, 95% CI: 1.55–1.94, p < 0.001). The HRs of incident AF for dementia onset before the age of 65 (early-onset dementia) and for onset after the age of 65 (late-onset dementia) were 2.91 (95% CI: 1.93–4.41) and 1.67 (95% CI: 1.49–1.87), respectively. Younger participants with AF were more prone to dementia development than older participants with AF (p for trend < 0.001). AF was associated with an increased risk of both early- and late-onset dementia, independent of clinical stroke.

scholarly journals Identity work of children with a parent with early-onset dementia in the Netherlands: Giving meaning through narrative construction

Dementia ◽  
2021 ◽  
pp. 147130122110334
Author(s):  
Silke Hoppe
Keyword(s):  
The Netherlands ◽  
Adult Children ◽  
Early Onset ◽  
Cultural Context ◽  
Late Onset ◽  
Making Meaning ◽  
Early Onset Dementia ◽  
The Impact ◽  
Depth Interviews ◽  
Late Onset Dementia

Background In the past years an increasing amount of research has been done on the experiences of adult children of a parent with early-onset dementia. However, little is still known about how the socio-cultural context influences the narratives of these children. Aim This study aimed to provide insights into the far-reaching consequences of parental early-onset dementia for adult children in the Netherlands. It illustrates how the experiences of these adult children are shaped by the context they live in. Method 16 in-depth interviews were conducted with adult children of a parent with early-onset dementia in the Netherlands. The interviews offered the children space to reflect on the impact the illness of their parent had on them and their lives. The data were analysed using thematic analysis. Findings This article illustrates that the comparative processes of relating to others' experiences help the children to reflect on the impact that their parent's illness has on their own lives, which in turn aids them in contextualising and making meaning out of their changing lives and relationships. This contextualization and recovery of meaning is shaped by three processes. The first concerns the ways these adult children draw comparisons between their own lives and experiences and those of their peers of the same age group. The second process entails comparative understandings of having a parent with early-onset dementia versus having a parent with late-onset dementia. The third process explores how having a parent with early-onset dementia compares to having a parent with other diseases. The processes of contextualisation which the adult children engage in are shaped by what the children perceive to be normal and thus also by their socio-cultural contexts. Conclusions This article reveals how meaning is created in a constant interplay between the primary experiences of having an ill parent and the socio-cultural context in which the experiences take place. It illustrates how this context provides for particular narratives, which in turn shape how the children are able to give meaning to their experiences.

A Novel Mutation of the Arylsulfatase A Gene in Late-Onset Metachromatic Leukodystrophy

2009 ◽  
Vol 70 (12) ◽  
pp. 1724-1725 ◽  
Author(s):  
Anja Schneider ◽  
Alkomiet Hasan ◽  
Sina Hirschel ◽  
Christian Wilhelm ◽  
Jürgen Kohlhase ◽  
...  
Keyword(s):  
Metachromatic Leukodystrophy ◽  
Late Onset ◽  
Novel Mutation ◽  
Arylsulfatase A

Novel Rare SORL1 Variants in Early-Onset Dementia

2021 ◽  
pp. 1-10
Author(s):  
Anita Korpioja ◽  
Johanna Krüger ◽  
Susanna Koivuluoma ◽  
Katri Pylkäs ◽  
Virpi Moilanen ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Early Onset ◽  
Rare Variants ◽  
Late Onset ◽  
Age At Onset ◽  
Early Onset Dementia ◽  
Missense Variants ◽  
Whole Exome ◽  
Increased Risk

Background: Rare variants of SORL1 have been associated with an increased risk of early-onset or late-onset Alzheimer’s disease (AD). However, a lot remains to be clarified about their significance in the pathogenesis of the disease. Objective: To evaluate the role of SORL1 variants among Finnish patients with early-onset AD (EOAD). Methods: The rare SORL1variants were screened in a cohort of 115 Finnish EOAD patients (mean age at onset 58.3 years, range 46–65 years) by using the whole-exome sequencing. Results: We found one novel nonsense variant (p.Gln290 *) and eight missense variants in SORL1. This is the first study reporting the SORL1 variants p.Lys80Arg, p.Ala789Val and p.Arg866Gln in EOAD patients. Furthermore, two of these three missense variants were overrepresented in EOAD patients compared to gnomAD non-neuro Finnish samples. Conclusion: This study strengthens the earlier findings, that the rare variants in SORL1 are associated with EOAD.

Is there a familial overlap between dementia and other psychiatric disorders?

2010 ◽  
Vol 23 (5) ◽  
pp. 749-755 ◽  
Author(s):  
Janardhanan C. Narayanaswamy ◽  
Mathew Varghese ◽  
Sanjeev Jain ◽  
Palani Thangaraju Sivakumar ◽  
Om Prakash ◽  
...  
Keyword(s):  
Early Onset ◽  
Psychiatric Symptoms ◽  
Late Onset ◽  
Cumulative Risk ◽  
Behavioral Disturbances ◽  
Early Onset Dementia ◽  
Psychiatric Illnesses ◽  
Kaplan Meier ◽  
Genetic Overlap ◽  
Late Onset Dementia

ABSTRACTBackground:Cognitive and psychiatric features are important components of dementia. Early onset dementia (EOD) has been found to be associated with a greater genetic basis. If this is the case, EOD could have genetic association with psychiatric illnesses, given the presence of more behavioral disturbances in this condition. There is a definite need to explore the presence of psychiatric symptoms and disorders in families of patients with dementia.Methods:The authors compared 52 proband families of dementia and 45 control families in order to assess the familial co-aggregation of major psychiatric illnesses. The cumulative risk in first degree relatives in the two groups for major psychiatric illnesses was calculated using Kaplan Meier Survival analysis. Early onset and late onset dementia proband families were compared separately with control families for the same.Results:There was a significantly higher morbid risk for psychosis in dementia proband families (generalized Wilcoxon, Breslow −4.165, p = 0.041). Also, the morbid risk was higher in early onset dementia proband families (generalized Wilcoxon, Breslow −6.16, p = 0.013) while it was not so in late onset dementia proband families (generalized Wilcoxon, Breslow −2.99, p = 0.084)Conclusion:There is a possible genetic overlap between dementia and psychosis. This appears to be more pronounced with early onset dementia than with late onset dementia.

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