Huntingtons Disease: A Case Report

The meticulous therapy for Huntington Disease is still beyond the knowledge. Huntington disease is a neurodegenerative disorder characterized by choreatic movements, behavioural and psychiatric disturbance. The present case was observed on 34 year old women, from a family in which the three previous generations were affected by the same disease.She showed the symptoms at the age of 26 and was diagnosed by means of signs and family history. All other organs tests were unremarkable. Symptomatic therapy is the only treatment existing at present thus she was discharged with tablet Lonazep (Clonazepam) 0.5mg .Counseling to the family plays a chief role since there is 50-50 chances of getting this disease to the next generations.

2016

Geriatrics and Aging, 2002

Movement disorders have a high prevalence in the elderly. In fact, disorders of gait and mobility are second only to cognitive impairment as the most prevalent neurologic disorders of aging.1 Huntington’s disease (HD) is an inherited neurodegenerative disorder characterized by alterations in mood, memory and movement first described by George Huntington in 1872.2,3 Recent advances in the elucidation of the pathophysiology of this disease may have implications in the development of more specific and effective treatments. The following article will review the epidemiology, pathophysiology, clinical presentation, diagnosis and treatment of HD, including novel treatments currently under development.

São Paulo Medical Journal

Case presentation: Male, 56-year-old, previously epileptic started with involuntary movements in the right hand at 47 years old evolving to torso, incoordination, behavioral and cognition disturbs. Paternal grandmother, father and cousin with similar symptoms, in addition to four asymptomatic children. From the onset of symptoms, it progressively worsened presenting involuntary movements, hallucinations, aggressiveness and neck drop. During the neurological examination had frequent cervical falls, tremors at rest in the limbs, and mood swings. Cranial magnetic resonance imaging (MRI) was with atrophy of the caudate nucleus and putamen. Genetic test for Huntington’s Disease without evidence of characteristic expansion of the disease and Huntington Like 2 Test (Junctophilin-3) compatible with characteristic expansion of the disease. Discussion: Huntington’s Disease Like-2 has an autosomal dominant character. A rare disease related to repetitive mutations of cytosine-thymineguanine in ...

2011

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD). The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation) are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which results in patients requiring fulltime care, and finally death. The most common cause of death is pneumonia, followed by suicide.

The Lancet, 2007

Search strategy and selection criteria I searched Pub Med from 1965-2005 for the term "Huntington's Disease" cross referenced with the terms "apoptosis", "axonal transport", "mitochondria", "animal model", "proteosome", "transcription", "juvenile", "suicide", "neurotransmitters", "age of onset", "identical twins", "neurodegeneration", and "imaging". I translated all non-English language publications that resulted from this search strategy. I mainly selected articles from the past fi ve years, but did not exclude commonly referenced and highly regarded older publications. I also searched the reference lists of articles identifi ed by this search strategy and selected those that I judged relevant. Several review articles and book chapters were included because they provide comprehensive overviews beyond the scope of this Seminar. The reference list was further modifi ed during the peer-review process based on comments from the reviewers. Year Event Publications (n)* 1374 Epidemic dancing mania described .. 1500 Paracelsus suggests CNS origin for chorea .. 1686 Thomas Sydenham describes post-infectious chorea .. 1832 John Elliotson identifi es inherited form of chorea 1 .. 1872 George Huntington characterises Huntington's disease 5 ..

International Journal of Research in Pharmaceutical Sciences, 2020

Huntington’s disease (HD) is a rare autosomal dominant, fatal neurodegenerative disorder of the central nervous system characterized by unwanted choreaticmovements, behavioural disruption, psychiatric disturbances anddementia. This condition is characterized by progressive degeneration of neurons within the basal ganglia, primarily the caudate and the putamen. As the disease progresses, neuronal losses occur in the white matter, cerebral cortex and thalamus. In this article, the authors reviewed the genetic aspects, etiological factors, stages of the disease condition along with the signs and symptoms, various diagnostic procedures besides with the pharmacological and non-pharmacological management of the Huntington’s disease. This disease is inherited within the families, and the pathophysiology of Huntington disease is restricted to the brain, where degeneration begins initially in the striatum, spreads to the cortex and eventually appears throughout the brain.The pathogenesis of ...

Parkinsonism & related disorders, 2018

Diseases with a choreic phenotype can be due to a variety of genetic etiologies. As testing for Huntington's disease (HD) becomes more available in previously resource-limited regions, it is becoming apparent that there are patients in these areas with other rare genetic conditions which cause an HD-like phenotype. Documentation of the presence of these conditions is important in order to provide appropriate diagnostic and clinical care for these populations. Information for this article was gathered in two ways; the literature was surveyed for publications reporting a variety of genetic choreic disorders, and movement disorders specialists from countries in Latin America and the Caribbean were contacted regarding their experiences with chorea of genetic etiology. Here we discuss the availability of molecular diagnostics for HD and for other choreic disorders, along with a summary of the published reports of affected subjects, and authors' personal experiences from the regio...

Clin Genet, 2001

BMC Neurology, 2013

Background: Huntington disease was one of the first neurological hereditary diseases for which genetic testing was made possible as early as 1993. The study describes the clinical and genetic characteristics of patients with Huntington disease in Sri Lanka. Methods: Data of 35 consecutive patients tested from 2007 to 2012 at the Human Genetics Unit, Faculty of Medicine, University of Colombo was analyzed retrospectively. Clinical data and genetic diagnostic results were reviewed. Statistical analysis was performed using descriptive statistics. Results: Thirty patients had fully penetrant (FP) CAG repeat mutations and 5 had reduced penetrant (RP) CAG repeat mutations. In the FP group mean ages of onset and diagnosis were 37.5 and 40.4 years, while in the RP group it was 63.0 and 64.8 years respectively. The age of diagnosis ranged from 15 to 72 years, with 2 patients with Juvenile onset (<20 years) and 3 with late onset (>60 years) Huntington disease. The symptoms at diagnosis were predominantly motor (32/35 -91%). Three patients had psychiatric and behavioral disorders. The age difference between onset and genetic diagnosis showed significant delay in females compared to males (p < 0.05). Twenty two (62.8%) had a positive family history, with 13/22 (59.1%) showing a paternal inheritance of the disease. In both groups, those with a family history had a significantly lower age of presentation (p < 0.05). The mean CAG repeat length in patients with FP alleles was 44.6 ± 5 and RP alleles was 37.2 ± 1.1. Age of onset and CAG repeat length of the HTT gene showed significant inverse correlation (p < 0.0005, R 2 = 0.727). Conclusions: The clinical and genetic features seen in patients with Huntington disease in the Sri Lankan study population were similar to that previously reported in literature.