scholarly journals Another Perspective on Huntington’s Disease: Disease Burden in Family Members and Pre-Manifest HD When Compared to Genotype-Negative Participants from ENROLL-HD

2021 ◽  
Vol 11 (12) ◽  
pp. 1621
Author(s):  
Jannis Achenbach ◽  
Carsten Saft
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Family Members ◽  
Large Cohort ◽  
Cognitive Test ◽  
Registry Study ◽  
Cross Sectional ◽  
Cognitive Capacities ◽  
Global Registry

Background: In addition to the effects on patients suffering from motor-manifest Huntington’s disease (HD), this fatal disease is devasting to people who are at risk, premanifest mutation-carriers, and especially to whole families. There is a huge burden on people in the environment of affected HD patients, and a need for further research to identify at-risk caregivers. The aim of our research was to investigate a large cohort of family members, in comparison with genotype negative and premanifest HD in order to evaluate particular cohorts more closely. Methods: We used the ENROLL-HD global registry study to compare motoric, cognitive, functional, and psychiatric manifestation in family members, premanifest HD, and genotype negative participant as controls. Cross-sectional data were analyzed using ANCOVA-analyses in IBM SPSS Statistics V.28. Results: Of N = 21,116 participants from the global registry study, n = 5174 participants had a premanifest motor-phenotype, n = 2358 were identified as family controls, and n = 2640 with a negative HD genotype. Analysis of variance revealed more motoric, cognitive, and psychiatric impairments in premanifest HD (all p < 0.001). Self-reported psychiatric assessments revealed a significantly higher score for depression in family controls (p < 0.001) when compared to genotype negative (p < 0.001) and premanifest HD patients (p < 0.05). Family controls had significantly less cognitive capacities within the cognitive test battery when compared to genotype negative participants. Conclusions: Within the largest cohort of HD patients and families, several impairments of motoric, functional, cognitive, and psychiatric components can be confirmed in a large cohort of premanifest HD, potentially due to prodromal HD pathology. HD family controls suffered from higher self-reported depression and less cognitive capacities, which were potentially due to loaded or stressful situations. This research aims to sensitize investigators to be aware of caregiver burdens caused by HD and encourage support with socio-medical care and targeted psychological interventions. In particular, further surveys and variables are necessary in order to implement them within the database so as to identify at-risk caregivers.

scholarly journals Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey

BMJ ◽  
2009 ◽  
Vol 338 (jun08 3) ◽  
pp. b2175-b2175 ◽  
Author(s):  
Y. Bombard ◽  
G. Veenstra ◽  
J. M Friedman ◽  
S. Creighton ◽  
L. Currie ◽  
...  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Discrimination ◽  
Cross Sectional Survey ◽  
Cross Sectional

scholarly journals Differential Diagnosis of Chorea—HIV Infection Delays Diagnosis of Huntington’s Disease by Years

2021 ◽  
Vol 11 (6) ◽  
pp. 710
Author(s):  
Jannis Achenbach ◽  
Simon Faissner ◽  
Carsten Saft
Keyword(s):  
Hiv Infection ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Disease Onset ◽  
Diagnostic Delay ◽  
Depression Scale ◽  
Cag Repeat ◽  
Psychiatric Disease ◽  
Disease Manifestation ◽  
Cross Sectional

Background: There is a broad range of potential differential diagnoses for chorea. Besides rare, inherited neurodegenerative diseases such as Huntington’s disease (HD) chorea can accompany basal ganglia disorders due to vasculitis or infections, e.g., with the human immunodeficiency virus (HIV). The clinical picture is complicated by the rare occurrence of HIV infection and HD. Methods: First, we present a case suffering simultaneously from HIV and HD (HIV/HD) focusing on clinical manifestation and disease onset. We investigated cross-sectional data regarding molecular genetic, motoric, cognitive, functional, and psychiatric disease manifestation of HIV/HD in comparison to motor-manifest HD patients without HIV infection (nonHIV/HD) in the largest cohort of HD patients worldwide using the registry study ENROLL-HD. Data were analyzed using ANCOVA analyses controlling for covariates of age and CAG repeat length between groups in IBM SPSS Statistics V.25. Results: The HD diagnosis in our case report was delayed by approximately nine years due to the false assumption that the HIV infection might have been the cause of chorea. Out of n = 21,116 participants in ENROLL-HD, we identified n = 10,125 motor-manifest HD patients. n = 23 male participants were classified as suffering from HIV infection as a comorbidity, compared to n = 4898 male non-HIV/HD patients. Except for age, with HIV/HD being significantly younger (p < 0.050), we observed no group differences regarding sociodemographic, genetic, educational, motoric, functional, and cognitive parameters. Male HIV/HD patients reported about a 5.3-year-earlier onset of HD symptoms noticed by themselves compared to non-HIV/HD (p < 0.050). Moreover, patients in the HIV/HD group had a longer diagnostic delay of 1.8 years between onset of symptoms and HD diagnosis and a longer time regarding assessment of first symptoms by the rater and judgement of the patient (all p < 0.050). Unexpectedly, HIV/HD patients showed less irritability in the Hospital Anxiety and Depression Scale (all p < 0.05). Conclusions: The HD diagnosis in HIV-infected male patients is secured with a diagnostic delay between first symptoms noticed by the patient and final diagnosis. Treating physicians therefore should be sensitized to think of potential alternative diagnoses in HIV-infected patients also afflicted by movement disorders, especially if there is evidence of subcortical atrophy and a history of hyperkinesia, even without a clear HD-family history. Those patients should be transferred for early genetic testing to avoid further unnecessary diagnostics and improve sociomedical care.

A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease

1990 ◽  
Vol 28 (5) ◽  
pp. 614-621 ◽  
Author(s):  
Scott T. Grafton ◽  
John C. Mazziotta ◽  
Jorg J. Pahl ◽  
Peter St. George-Hyslop ◽  
Jonathan L. Haines ◽  
...  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Evaluations

Young People Living at Risk of Huntington’s Disease: The Lived Experience

2018 ◽  
Vol 7 (4) ◽  
pp. 391-402 ◽  
Author(s):  
Miranda F. Lewit-Mendes ◽  
Georgia C. Lowe ◽  
Sharon Lewis ◽  
Louise A. Corben ◽  
Martin B. Delatycki
Keyword(s):  
At Risk ◽  
Young People ◽  
Huntington's Disease ◽  
Lived Experience ◽  
Huntington’S Disease

scholarly journals Perceptions about Research Participation among Individuals at Risk and Individuals with Premanifest Huntington’s Disease: A Survey Conducted by the European Huntington Association

2021 ◽  
Vol 11 (8) ◽  
pp. 815
Author(s):  
Filipa Júlio ◽  
Ruth Blanco ◽  
Josè Perez Casanova ◽  
Barbara D’Alessio ◽  
Beatrice De Schepper ◽  
...  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Research Participation ◽  
Willingness To Participate ◽  
Research Experience ◽  
Research Information ◽  
Research Knowledge ◽  
Patient Organizations ◽  
Motivation To Participate

There has been great progress in Huntington’s disease (HD) research. Yet, effective treatments to halt disease before the onset of disabling symptoms are still unavailable. Scientific breakthroughs require an active and lasting commitment from families. However, they are traditionally less involved and heard in studies. Accordingly, the European Huntington Association (EHA) surveyed individuals at risk (HDRisk) and with premanifest HD (PreHD) to determine which factors affect their willingness to participate in research. Questions assessed research experience and knowledge, information sources, reasons for involvement and noninvolvement, and factors preventing and facilitating participation. The survey included 525 individuals, of which 68.8% never participated in studies and 38.6% reported limited research knowledge. Furthermore, 52% trusted patient organizations to get research information. Reasons for involvement were altruistic and more important than reasons for noninvolvement, which were related to negative emotions. Obstacles included time/financial constraints and invasive procedures, while professional support was seen as a facilitator. PreHD individuals reported less obstacles to research participation than HDRisk individuals. Overall, a high motivation to participate in research was noted, despite limited experience and literacy. This motivation is influenced by subjective and objective factors and, importantly, by HD status. Patient organizations have a key role in fostering motivation through education and support.

Genetic counselling: a new diagnosis in the family

2020 ◽  
pp. 64-71
Author(s):  
Oliver Quarrell
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Counselling ◽  
Genetic Disorders ◽  
Medical Doctors ◽  
Genetic Tests ◽  
The Family ◽  
Close Relatives ◽  
New Diagnosis

This chapter describes the process of genetic counselling in general but with an emphasis on Huntington’s disease. The chapter discusses issues for a new diagnosis in the family and describes the challenges of telling children that they are at risk. Medical doctors often lead genetic counselling teams as they are specially trained to give information about genetic disorders and explain the implications of genetic tests. The doctor or counsellor has to understand your particular circumstances and support you in a way that allows you to make your own decisions. A diagnosis of HD has implications for you and all your close relatives.

scholarly journals Epidemiology and health care utilization of patients suffering from Huntington’s disease in Germany: real world evidence based on German claims data

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Christoph Ohlmeier ◽  
Kai-Uwe Saum ◽  
Wolfgang Galetzka ◽  
Dominik Beier ◽  
Holger Gothe
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Claims Data ◽  
Routine Care ◽  
Care Utilization ◽  
Research Database ◽  
Cross Sectional ◽  
Case Identification ◽  
Starting Point ◽  
Icd 10

Abstract Background Huntington’s disease (HD) is a rare, genetic, neurodegenerative and ultimately fatal disease with no cure or progression-delaying treatment currently available. HD is characterized by a triad of cognitive, behavioural and motor symptoms. Evidence on epidemiology and management of HD is limited, especially for Germany. This study aims to estimate the incidence and prevalence of HD and analyze the current routine care based on German claims data. Methods The source of data was a sample of the Institute for Applied Health Research Berlin (InGef) Research Database, comprising data of approximately four million insured persons from approximately 70 German statutory health insurances. The study was conducted in a retrospective cross-sectional design using 2015 and 2016 as a two-year observation period. At least two outpatient or inpatient ICD-10 codes for HD (ICD-10: G10) during the study period were required for case identification. Patients were considered incident if no HD diagnoses in the 4 years prior to the year of case identification were documented. Information on outpatient drug dispensations, medical aids and remedies were considered to describe the current treatment situation of HD patients. Results A 2-year incidence of 1.8 per 100,000 persons (95%-Confidence interval (CI): 1.4–2.4) and a 2-year period prevalence of 9.3 per 100,000 persons (95%-CI: 8.3–10.4) was observed. The prevalence of HD increased with advancing age, peaking at 60–69 years (16.8 per 100,000 persons; 95%-CI: 13.4–21.0) and decreasing afterwards. The most frequently observed comorbidities and disease-associated symptoms in HD patients were depression (42.9%), dementia (37.7%), urinary incontinence (32.5%), extrapyramidal and movement disorders (30.5%), dysphagia (28.6%) and disorders of the lipoprotein metabolism (28.2%). The most common medications in HD patients were antipsychotics (66.9%), followed by antidepressants (45.1%). Anticonvulsants (16.6%), opioids (14.6%) and hypnotics (9.7%) were observed less frequently. Physical therapy was the most often used medical aid in HD patients (46.4%). Nursing services and speech therapy were used by 27.9 and 22.7% of HD patients, respectively, whereas use of psychotherapy was rare (3.2%). Conclusions Based on a representative sample, this study provides new insights into the epidemiology and routine care of HD patients in Germany, and thus, may serve as a starting point for further research.

Huntington's disease: prediction and prevention

1988 ◽  
Vol 319 (1194) ◽  
pp. 285-298 ◽  
Keyword(s):  
At Risk ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Late Onset ◽  
Predictive Test ◽  
Prediction And Prevention ◽  
Feasible Alternative ◽  
Dna Restriction ◽  
The Individual ◽  
First Time

The identification of a DNA restriction fragment length polymorphism closely linked to Huntington’s disease on the short arm of chromosome 4 has for the first time allowed presymptomatic prediction to be undertaken in first-degree relatives at risk. The late and variable onset of this dominantly inherited disorder makes such prediction a powerful and potentially valuable aid in genetic counselling, but in the absence of effective therapy there are serious ethical reservations concerning such a predictive test. The new developments have stimulated an active and informative debate among professionals and family members on whether and how predictive tests should be used. Guidelines have emerged which should be useful not only for Huntington’s disease, but for other serious late-onset neurogenetic disorders. Meanwhile, studies in Wales and elsewhere have not only confirmed the original linkage but have excluded multi-locus heterogeneity as a significant problem. Genetic prediction for the individual at risk remains critically dependent on a suitable family structure, present in only a minority of families in Wales. A more feasible alternative for most families is prenatal exclusion, which can allow risk prediction for a pregnancy without altering the situation for the person at risk. This approach has already been applied in Wales; the experience gained will be useful in full prediction, which is currently being introduced.

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