scholarly journals Genesis of ER stress in Huntington’s Disease

2015 ◽  
Vol 2 (1) ◽  
Author(s):  
Marina Shenkman ◽  
Hagit Eiger ◽  
Gerardo Z. Lederkremer
Keyword(s):  
Neurodegenerative Diseases ◽  
Er Stress ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Late Onset ◽  
Genetic Disorder ◽  
Effective Therapy ◽  
Major Mechanism ◽  
Shed Light

AbstractRecent research has identified ER stress as a major mechanism implicated in cytotoxicity in many neurodegenerative diseases, among them Huntington’s disease. This genetic disorder is of late-onset, progressive and fatal, affecting cognition and movement. There is presently no cure nor any effective therapy for the disease. This review focuses on recent findings that shed light on the mechanisms of the advent and development of ER stress in Huntington’s disease and on its implications, highlighting possible therapeutic avenues that are being or could be explored.

Neuroinflammation in Huntington’s disease: A starring role for astrocyte and microglia

2021 ◽  
Vol 19 ◽  
Author(s):  
Julieta Saba ◽  
Federico López Couselo ◽  
Julieta Bruno ◽  
Lila Carniglia ◽  
Daniela Durand ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Genetic Disorder ◽  
Cag Repeat ◽  
Inflammatory Factors ◽  
Therapeutic Approaches ◽  
Reactive Microglia ◽  
New Treatments ◽  
The Brain

: Huntington’s disease (HD) is a neurodegenerative genetic disorder caused by a CAG repeat expansion in the huntingtin gene. HD causes motor, cognitive, and behavioral dysfunction. Since no existing treatment affects the course of this disease, new treatments are needed. Inflammation is frequently observed in HD patients before symptom onset. Neuroinflammation, characterized by the presence of reactive microglia and astrocytes and inflammatory factors within the brain, is also detected early. However, in comparison with other neurodegenerative diseases, the role of neuroinflammation in HD is much less known. Work has been dedicated to altered microglial and astrocytic functions in the context of HD, but less attention has been given to glial participation in neuroinflammation. This review describes evidence of inflammation in HD patients and animal models. It also discusses recent knowledge on neuroinflammation in HD, highlighting astrocyte and microglia involvement in the disease and considering anti-inflammatory therapeutic approaches.

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.

Late-Onset Huntington's Disease: A Geriatric Psychiatry Perspective

1996 ◽  
Vol 9 (1) ◽  
pp. 26-29 ◽  
Author(s):  
Kenneth I. Shulman ◽  
Anne Lennox ◽  
Harry Karlinsky
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Elderly Patients ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Psychiatric Symptoms ◽  
Late Onset ◽  
Clinical Aspects ◽  
Illustrative Case ◽  
Wide Range

Late-onset Huntington's disease is more common than has been generally appreciated and is associated with a wide range of psychiatric symptoms and syndromes. Geriatric psychiatrists have an important role to play in establishing the diagnosis and providing guidance to elderly patients and their families as they struggle with difficult management decisions. An illustrative case report and selective literature review are presented that highlight the genetic and clinical aspects of the condition.

scholarly journals Huntington’s Disease in a Patient Misdiagnosed as Conversion Disorder

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
João Machado Nogueira ◽  
Ana Margarida Franco ◽  
Susana Mendes ◽  
Anabela Valadas ◽  
Cristina Semedo ◽  
...  
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Psychiatric Symptoms ◽  
Age Of Onset ◽  
Late Onset ◽  
Psychiatric Patients ◽  
Conversion Disorder ◽  
Cag Repeat ◽  
Clinical Assessments ◽  
Clinical Presentations

Huntington’s disease (HD) is an inherited, progressive, and neurodegenerative neuropsychiatric disorder caused by the expansion of cytosine-adenine-guanine (CAG) trinucleotide in Interested Transcript (IT) 15 gene on chromosome 4. This pathology typically presents in individuals aged between 30 and 50 years and the age of onset is inversely correlated with the length of the CAG repeat expansion. It is characterized by chorea, cognitive deficits, and psychiatric symptoms. Usually the psychiatric disorders precede motor and cognitive impairment, Major Depressive Disorder and anxiety disorders being the most common presentations. We present a clinical case of a 65-year-old woman admitted to our Psychiatric Acute Unit. During the 6 years preceding the admission, the patient had clinical assessments made several times by different specialties that focused only on isolated symptoms, disregarding the syndrome as a whole. In the course of her last admission, the patient was referred to our Neuropsychiatric Team, which made the provisional diagnosis of late-onset Huntington’s disease, later confirmed by genetic testing. This clinical vignette highlights the importance of a multidisciplinary approach to atypical clinical presentations and raises awareness for the relevance of investigating carefully motor symptoms in psychiatric patients.

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