| 词条 | Huntington's disease-like syndrome |
| 释义 |
| name = {{PAGENAME}} | synonyms = | field = Neurology | image = | width = | alt = | caption = | pronounce = | specialty = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}Huntington's disease-like syndromes (HD-like or HDL syndromes) are a family of inherited neurodegenerative diseases that closely resemble Huntington's disease (HD) in that they typically produce a combination of chorea, cognitive decline or dementia and behavioural or psychiatric problems.[1] TypesHDL1HDL1 is an unusual, autosomal dominant familial prion disease. Only described in one family, it is caused by an eight-octapeptide repeat insertion in the PRNP gene. More broadly, inherited prion diseases in general can mimic HD.[1] HDL2HDL2 is the commonest HD-like syndrome and is caused by GTC/CAG triplet expansions in the JPH3 gene encoding junctophilin-3. It is almost exclusively restricted to populations of African descent, and is actually more common than Huntington’s disease in black South Africans.[1]HDL3HDL3 is a rare, autosomal recessive disorder linked to chromosome 4p15.3. It has only been reported in two families and the causative gene is unidentified.[1] OtherOther neurogenetic disorders can cause an HD-like or HD phenocopy syndrome but are not solely defined as HDL syndromes. The commonest is spinocerebellar ataxia type 17 (SCA-17), occasionally called HDL-4. Others include mutations in C9orf72,[2][3] spinocerebellar ataxias type 1 and 3, neuroacanthocytosis, dentatorubral-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia, mitochondrial disease.[1] A Huntington's disease-like presentation may also be caused by acquired causes.[1] See also
References1. ^1 2 3 4 5 {{cite journal|last1=Wild|first1=EJ|last2=Tabrizi|first2=SJ|title=Huntington's disease phenocopy syndromes.|journal=Current Opinion in Neurology|date=December 2007|volume=20|issue=6|pages=681–7|pmid=17992089|doi=10.1097/wco.0b013e3282f12074}} 2. ^{{cite journal|last1=Hensman Moss|first1=DJ|last2=Poulter|first2=M|last3=Beck|first3=J|last4=Hehir|first4=J|last5=Polke|first5=JM|last6=Campbell|first6=T|last7=Adamson|first7=G|last8=Mudanohwo|first8=E|last9=McColgan|first9=P|last10=Haworth|first10=A|last11=Wild|first11=EJ|last12=Sweeney|first12=MG|last13=Houlden|first13=H|last14=Mead|first14=S|last15=Tabrizi|first15=SJ|title=C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies.|journal=Neurology|date=28 January 2014|volume=82|issue=4|pages=292–9|pmid=24363131|doi=10.1212/WNL.0000000000000061|pmc=3929197}} 3. ^{{cite journal|last1=Cooper-Knock|first1=J|last2=Shaw|first2=PJ|last3=Kirby|first3=J|title=The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype.|journal=Acta Neuropathologica|date=March 2014|volume=127|issue=3|pages=333–45|pmid=24493408|doi=10.1007/s00401-014-1251-9|pmc=3925297}} External links{{Medical resources| DiseasesDB = 33520, 33521, 34626 | OMIM = 606438, 603218, 604802 }} 7 : Rare syndromes|Extrapyramidal and movement disorders|Genetic diseases and disorders|Systemic atrophies primarily affecting the central nervous system|Autosomal dominant disorders|Trinucleotide repeat disorders|Huntington's disease |
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