Huntington Hastalığı’nın Nöropsikiyatrik Yönü

Abstract

Huntington's Disease is a progressive neurodegenerative disorder inherited in an autosomal dominant fashion with distinct phenotypes as chorea and dystonia, incoordination, cognitive disorders, and behavioural problems. In addition to cognitive and motor symptoms, neuropsychiatric symptoms are among the core symptoms of the disease. Neuropsychiatric symptoms are quite common in Huntington's Disease and the prevalence of neuropsychiatric disorders in different stages of the disease is estimated to be 33-76%. Although the prevelance of neuropsychiatric symptoms varies among the stages of the disease, it is also known that the onset of these symptoms may be years before the onset of motor symptoms. Common neuropsychiatric symptoms and disorders in Huntington's Disease include depression, anxiety, suicide, irritability, apathy, obsessive-compulsive symptoms, perseverations, psychosis, sleep disorders, and sexual dysfunctions. Neuropsychiatric symptoms constitute one of the most important factors for the burden on families, and are considered to be the most important predictors of decrease in daily functionality and institutionalizations in care centers and hospitalizations. Considering both its frequency and outcomes, it is very important for patients, their relatives and caregivers to recognize and intervene in neuropsychiatric symptoms of Huntington's Disease. Although there are no studies with a high level of evidence on the treatment of neuropsychiatric symptoms of the disease, studies with lower levels of evidence, case reports and treatment guidelines based on expert opinions are found in the literature in recent years. Another issue to be considered in this area is the evaluation of individuals at genetic risk, genetic counseling and setting a safe protocol during these evaluations. In this article, neuropsychiatric disorders common in Huntington's Disease, the management of these disorders and the conditions to be considered in the evaluation of individuals at genetic risk are reviewed in the light of current literature.

Survey on the Most Current Image Processing Methods in Huntington's Disease Diagnostics and Progression Assessment

“…As it progresses, there is a need for a long or even 24 hour care [55]. Also, many people with HD commit suicide, with a risk estimated to be from 2 to 7 times greater than in general population [5,12,19,21,22,25,77]. It is suggested that the risk of suicide in HD is related to the fact that the disease is neurodegenerative, progressive, seriously hampering functioning in many areas of the patient's life, with the awareness of the lack of effective treatment, and on the other hand, suicidal behavior is not related to perseverative behavior [19,24,64].…”

“…Usually, imaging techniques are applied to find biomarkers for HD, in particular for its pre-manifest stage (preHD). Despite rapid medicine development, neither cure nor therapy for this disease are available [5,20]; therefore, finding appropriate biomarkers plays crucial role at the preHD stage in order to make the potential symptomatic treatment more efficient and to improve life quality of affected persons [20].…”

“…Huntington's disease (HD) is a rare, incurable neurodegenerative disorder [31,40,89] named after George Huntington who reported it for the first time in 1872 [5,28,55,59]. Initially the disease was named Huntington's Chorea.…”

“…Initially the disease was named Huntington's Chorea. The first cases, however, were clearly described by John Eliotson in 1932 and the first paper concerning HD was published in 1942 by Charles Waters [5].…”

“…Most symptoms develop during adulthood [82]. It is clinically characterised with impaired voluntary movements, onset of chorea (involuntary "choreoathetoid" movements), dystonia myoclonic jerks and ticks, and some psychiatric symptoms (anxiety, apathy, sleep problems, depression) [5,26,28,52,66]. Motor symptoms are the most characteristic symptoms for the HD -chorea, which can cause problems with writing, eating, walking and balance maintenance.…”