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Huntington Disease-Like 2

HDL2


Presentation

  • The diagnosis therefore should be considered in a wide spectrum of neuropsychiatric and abnormal movement presentations. (c) 2007 Movement Disorder Society.[ncbi.nlm.nih.gov]
  • Here, we systematically compare 5 HDL2 and 5 HD brains with the hypothesis that, reflecting the clinical presentation, the neuropathology of the 2 diseases would be similar.[ncbi.nlm.nih.gov]
  • A clinical evaluation, including the Unified Huntington's Disease Rating Scale, and brain Magnetic resonance imaging were achieved in a 48-year-old Brazilian man of apparent European extraction, and presenting a picture very suggestive of HD.[ncbi.nlm.nih.gov]
  • The present study aimed to characterize the genetic basis of the Huntington disease phenotype in South Africans and to investigate the possible origin of the JPH3 mutation.[ncbi.nlm.nih.gov]
  • Clinical Presentation of HDL2 In the context of the clinical presentation of HD and HDL2, the two diseases cannot be distinguished. However, HDL2 patients tend to have more pronounced parkinsonism symptoms than in HD.[web.stanford.edu]
Abdominal Obesity
  • Obese Patients Completed NCT00239967 Phase 3 Rimonabant (SR141716);Placebo 7 A Study to Investigate the Effect of Rosuvastatin (CRESTOR ) on High Density Lipoprotein Kinetics in Patients With the Metabolic Syndrome Completed NCT00240305 Phase 3 Rosuvastatin[malacards.org]
Abnormal Eye Movement
  • Abnormal eye movements are a cardinal and early feature of HD. Normal eye movements in HDL2 would predict sparing of the brainstem in HDL2, as has been has been demonstrated in 5 cases histopathologically.[mdsabstracts.org]
Irritability
  • Irritability: For severe anger and threatening behavior, experts agree that an atypical antipsychotic drug is the preferred approach.[alz.org]
  • Irritability and aggression Some people with Huntington's disease become easily irritated or angered. This can be partly caused by an inability to see things from another person’s point of view.[betterhealth.vic.gov.au]
  • As the disease progresses, the patient may show changes in behaviour and personality, including depression, irritability and anxiety.[lundbeck.com]
  • Patients have prominent psychiatric symptoms, including becoming irritable and impulsive and sometimes aggressive. "There are very high rates of depression and anxiety," Boyd said.[burlingtonfreepress.com]
  • Some common early symptoms: Slight changes in coordination, affecting balance or making you more clumsy Fidgety movements that you can't control Slowing or stiffness Trouble thinking through problems Depression or irritability Middle stage.[webmd.com]
Hyperreflexia
  • In this HDL2 type, chorea may be more prominent, while dystonia , bradykinesia , tremors, hyperreflexia , and dysarthria are less prominent (Margolis, 2009).[web.stanford.edu]
  • […] symptoms Cognitive speed impaired first (executive function) Mood disorders Suicidal ideation Dementia Relentless progression of disease with death 15-20 years after onset Successive generations tend to have earlier onset Juvenile onset symptoms Clumsiness Hyperreflexia[arupconsult.com]
  • Other clinical features such as bradykinesia/parkinsonism, hyperreflexia, dysarthria, frontal lobe syndrome, and dementia may be variably present. Cognitive deficits and psychiatric features appear to be less prominent compared to HD.[movementdisorders.org]

Workup

  • DNA testing is used to diagnose HD; workup of the disease in asymptomatic individuals should also involve neurological and psychological examination in addition to genetic counseling.[arupconsult.com]
  • Workup of the patient with chorea (2) • MRI brain gadoliniumMRI brain gadolinium • CSF protein, glucose (lactate/pyruvate), 14-3-3, cells,CSF protein, glucose (lactate/pyruvate), 14-3-3, cells, infectious markers, paraneoplastic absinfectious markers,[slideshare.net]
  • However, traditional one-by-one genetic testing facilitating the diagnostic workup is increasingly replaced by simultaneous gene testing using next-generation multiple gene panels and whole exome/genome sequencing.[movementdisorders.org]

Treatment

  • Each disease is ultimately fatal with no effective treatment to stop or slow the relentless progression. HD affects about 30,000 Americans, with a much higher number at risk;HDL2 is rare.[grantome.com]
  • 11 France, Sales by Treatment (2017 - 2023) TABLE 12 Italy, Sales by Treatment (2017 - 2023) TABLE 13 Spain, Sales by Treatment (2017 - 2023) TABLE 14 Japan, Sales by Treatment (2017 - 2023) TABLE 15 Patent Expiry Analysis TABLE 16 U.S.[gii.co.jp]
  • Treatment and Prevention Like HD, there is currently no known treatment that stops or slows the progression of HDL2.[web.stanford.edu]
  • Treatment and outcomes There is currently no cure for Huntington's disease and no way to slow or stop the brain changes it causes. Treatments focus on managing symptoms.[alz.org]

Prognosis

Etiology

  • Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med.[books.google.com]
  • […] phenotypes and supports the need for clinicians to initiate genetic counseling in patients who show clinical signs of HD to further evaluate nonpathologic etiologies due to phenocopies.[neurologyadvisor.com]
  • Treatment of chorea usually entails addressing its root etiology. The most common symptomatic treatment of chorea include the use of neuroleptic agents, other dopamine depleters such as tetrabenazine, and sometimes benzodiazepines.[movementdisorders.org]
  • […] disease gene test Susanne A Schneider, Ruth H Walker and Kailash P Bhatia Huntington's disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology[hdlf.org]
  • (HD, HDL2,due to neurodegenerative etiology (HD, HDL2, chorea-acanthocytosis, McLeod)chorea-acanthocytosis, McLeod) 31.[slideshare.net]

Epidemiology

  • Vasconcellos , Mariana Spitz , Vitor Tumas First published April 17, 2017, Abstract Objective: This study aims to report a series of six patients with genetic diagnosis of Huntington disease-like type 2 (HDL2) and to describe the clinical manifestations and epidemiological[neurology.org]
  • Epidemiology & Association with African Ancestry HDL2 is very rare and thus far has been identified in about 1% of individuals with HDL disorders who tested negative for the HD mutation .[web.stanford.edu]
  • […] dyskinesias Parkinson disease Amyotrophic lateral sclerosis Wilson disease Drug induced (phenytoin, L-dopa, cocaine, oral contraceptives) HIV /AIDS Paraneoplastic syndrome Thyrotoxicosis Dentatorubral-pallidoluysian atrophy Neuroferritinopathy Background Epidemiology[arupconsult.com]
  • In collaboration with UCT and Prof Jacquie Greenberg, she is continuing her research on HD with a focus on disease epidemiology and HD-like disorders (or phenocopies ).[humangenetics.uct.ac.za]
  • Market Formulation & Validation Chapter 2 Executive Summary Chapter 3 Disease Primer and Epidemiology 3.1 Disease Primer 3.1.1 Molecular Biology and Genetics of Huntington Disease (HD) 3.1.2 Signs and Symptoms 3.1.3 Biomarkers 3.1.4 Current Prevalence[gii.co.jp]
Sex distribution
Age distribution

Pathophysiology

  • These studies will lead to a better understanding of HD and HDL2 pathophysiology, and may reveal novel molecular targets and pathways for therapeutic development.[grantome.com]
  • Its pathophysiology involves a functional dysregulation of the basal ganglia motor circuit, where the final thalamo-cortical output is increased, resulting in increased movement and chorea.[movementdisorders.org]
  • The molecular pathophysiology is not fully understood.[movementdisorders.org]

Prevention

  • We conducted a randomized trial of this diet pattern for the primary prevention of cardiovascular events.[nejm.org]
  • These types of diseases occur when errors in RNA sequences prevent the production of key proteins. However, with RNA-targeting Cas9, researchers were able to get rid of the RNA errors, particularly those linked to ALS and Huntington’s.[digitaltrends.com]
  • Brain Health Registry promotes healthy brain function through the prevention of brain diseases, brain disorders and brain injuries that affect brain function in adults.[englishrosesuites.com]
  • Treatment and Prevention Like HD, there is currently no known treatment that stops or slows the progression of HDL2.[web.stanford.edu]
  • These results suggest that preventing caspase-6 cleavage of huntingtin may be of therapeutic interest. [9][emedicine.medscape.com]

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