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Huntington Disease-Like 3

HDL3


Presentation

  • The present study indicates that lutein is a promising candidate for the management of HD and related conditions.[liebertpub.com]
  • ORPHA:157946 Synonym(s): HDL3 Prevalence: Inheritance: Autosomal recessive Age of onset: Childhood ICD-10: G10 OMIM: 604802 UMLS: C1858114 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only.[orpha.net]
  • They're all characterized by variable presentation of chorea, dystonia, and parkinsonism, cognitive impairment, and psychiatric disturbance. 0:31 The CAG repeat diseases comprise Huntington's disease, DRPLA, SBMA, and SCA1, 2, 3, 6, 7 and 17.[hstalks.com]
  • Five of 10 sibs (three sisters and two brothers) from a first-cousin marriage presented with clinical and radiologic features simulating juvenile Huntington disease.[cags.org.ae]
Wheelchair Bound
  • By the age of 12 years, he became mute and wheelchair-bound and began to have attacks of tonic movements of the upper limbs with rolling up of both eyes. A year later, Kambouris et al. (2000) presented further data on the same family.[cags.org.ae]
  • Immobility Destruction of the basal ganglia with loss of movement control, incoordination and postural disturbances leaves patients with advanced Huntington's disease wheelchair-bound.[livestrong.com]
Inflammation
  • […] diagnosed with mild hypercholesterolaemia. ( 29688571 ) 2018 2 Activity of paraoxonase 1 (PON1) on HDL2 and HDL3 subclasses in renal disease. ( 30130521 ) Miljkovic M...Kotur-Stevuljevic J 2018 3 HDL3-C is a marker of coronary artery disease severity and inflammation[malacards.org]
Hypertension
  • KMSRI-Seoul Study. ( 20832067 ) Lee M...Kim MK 2010 20 Ezetimibe decreases serum amyloid A levels in HDL3 in hemodialysis patients. ( 20875380 ) Hirano T...Taira T 2010 21 Serum lecithin: cholesterol acyltransferase activity, HDL2 and HDL3 composition in hypertensive[malacards.org]
  • Hirano T...Taira T 2010 21 Fatty liver is independently associated with alterations in circulating HDL2 and HDL3 subfractions. ( 18000185 ) Kantartzis K...Stefan N 2008 22 Serum lecithin: cholesterol acyltransferase activity, HDL2 and HDL3 composition in hypertensive[malacards.org]
Thrombosis
  • Aßmann Arteriosclerosis, thrombosis, and vascular… 1998 We demonstrate that physiological concentrations of HDL3 inhibit the thrombin-induced platelet fibrinogen binding and aggregation… (More)[semanticscholar.org]
Incontinence
  • When she was nine years she became totally mute and incontinent, walked only with help, and needed assistance in feeding. She had poor facial expressions, but full eye movements.[cags.org.ae]
  • Loss of bladder and bowel control leads to urinary and fecal incontinence.[livestrong.com]
  • John’s father did the same for Cindy in his home for four years until she became incontinent and unable to walk and eat without assistance.[digitaljournal.com]

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]
Albuminuria
  • ( 25230879 ) Rosenblat M...Aviram M 2014 12 α-Tocopherol induces proatherogenic changes to HDL2 & HDL3: an in vitro and ex vivo investigation. ( 23287638 ) Wade L...McEneny J 2013 13 Lower levels of total HDL and HDL3 cholesterol are associated with albuminuria[malacards.org]
Dyslipidemia
  • Markers, and Other Factors in a Japanese Population. ( 26686740 ) Moriyama K...Takahashi E 2016 8 Statin action enriches HDL3 in polyunsaturated phospholipids and plasmalogens and reduces LDL-derived phospholipid hydroperoxides in atherogenic mixed dyslipidemia[malacards.org]
Foam Cell
  • ) Norata GD...Eriksson P 2004 35 Purification and measurement of HDL3-binding proteins in human peripheral blood mononuclear cells. ( 12956441 ) Hidaka H...Katsuyama T 2003 36 Cathepsins F and S block HDL3-induced cholesterol efflux from macrophage foam[malacards.org]

Treatment

  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • 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]
  • We work with UAB functional neurosurgeons to coordinate treatment strategies for movement disorders, including PD, dystonia, and essential tremor.[uabmedicine.org]
  • 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

  • , Prevention, and Complications Condition is inevitably fatal Average prognosis is approximately 20 years from symptom onset Please rate topic.[medbullets.com]
  • Treatment and prognosis No treatment is currently generally available 4.[radiopaedia.org]

Etiology

  • […] 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]
  • Abstract 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.[ncbi.nlm.nih.gov]
  • […] syndrome Supergrp Core neuroacanthocytosis syndromes [DS: H00832 ] Description Huntington 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[genome.jp]
  • Etiology and Pathophysiology Associated with a CAG trinucleotide repeat expansion of the huntingtin gene (HTT) on the short arm of chromosome 4 (4p16.3) causing a toxic gain-of-function mutation The gene encodes the protein huntingtin, which plays a role[unboundmedicine.com]

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]
  • […] generations, (anticipation) particularly with paternal transmission HD mutation results in neuronal death, particularly in the caudate nucleus and putamen ( basal ganglia) age of onset and severity of disease is inversely correlated with number of CAG repeats Epidemiology[medbullets.com]
  • […] 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]
  • Typically, 100% penetrance Autosomal dominant, juvenile form is typically paternally inherited; otherwise, equal paternal and maternal inheritance pattern Epidemiology Predominant age: onset typically 30 to 50 years but can occur at any age Predominant[unboundmedicine.com]
  • 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]
Sex distribution
Age distribution

Pathophysiology

  • His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease.[books.google.com]
  • Hopefully, with better understanding of their pathophysiology we are moving towards mechanistic therapies.[journals.lww.com]
  • Pathophysiology of acanthocytosis in domestic animals has not been studied except for abetalipoproteinemia.[n.neurology.org]
  • Introduction Definition autosomal dominant, incurable neurodegenerative disorder characterized by choreiform movements, cognitive decline, mood dysfunction Pathophysiology autosomal dominant CAG triplet repeat expansion in one allele of the HD (huntingtin[medbullets.com]
  • Etiology and Pathophysiology Associated with a CAG trinucleotide repeat expansion of the huntingtin gene (HTT) on the short arm of chromosome 4 (4p16.3) causing a toxic gain-of-function mutation The gene encodes the protein huntingtin, which plays a role[unboundmedicine.com]

Prevention

  • Prevention of Huntington's disease Because Huntington's is a genetic disease, you can't do anything to prevent it if you have inherited it.[stanfordhealthcare.org]
  • Prevention Because Huntington’s is a genetic disease, you can’t do anything to prevent it if you have inherited it.[columbianeurology.org]
  • Ferguson,mGluR5 antagonism increases autophagy and prevents disease progression in the zQ175mouse model of Huntington's disease. Sci. Signal. 10, eaan6387 (2017).[cosmobio.co.jp]
  • By identifying these changes, researchers believe they may have found an effective way to slow or prevent the disease.[genome.gov]
  • Medications are available to help manage the symptoms of Huntington's disease, but treatments can't prevent the physical, mental and behavioral decline associated with the condition.[mayoclinic.org]

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