| 词条 | Kufor–Rakeb syndrome |
| 释义 |
| name = Kufor–Rakeb syndrome | synonyms = KRS | image = | alt = | caption = | pronounce = | field = | geneReviewsID = | symptoms = | complications = | onset = | duration = | types = | causes = Mutations in the ATP13A2 gene | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = <1:1,000,000 | deaths = }} Kufor–Rakeb syndrome is an autosomal recessive disorder of juvenile onset also known as Parkinson disease-9 (PARK9)[1]. Symptoms include supranuclear gaze palsy, spasticity, and dementia[2]. It can be associated with ATP13A2. It is named after Kufr Rakeb in Irbid, Jordan. References1. ^{{cite journal |vauthors=Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ |title=Kufor–Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia |journal=Mov. Disord. |volume=20 |issue=10 |pages=1264–71 |date=October 2005 |pmid=15986421 |doi=10.1002/mds.20511 }} 2. ^{{cite journal |vauthors=Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ |title=Kufor–Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia |journal=Mov. Disord. |volume=20 |issue=10 |pages=1264–71 |date=October 2005 |pmid=15986421 |doi=10.1002/mds.20511 }} External links{{Medical resources| DiseasesDB = | ICD10 = G23.0 | ICD9 = | ICDO = | OMIM = 606693 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = | GeneReviewsName = | Orphanet = 306674 }}{{Ion pump disorders}}{{DEFAULTSORT:Kufor-Rakeb syndrome}}{{genetic-disorder-stub}} 3 : Syndromes|Autosomal recessive disorders|Neurodegenerative disorders |
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