प्रगतिशील सुप्रान्यूक्लियर पाल्सी
अंतिम अद्यतन 18 Aug 2020
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Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.
विवरण
Progressive supranuclear palsy is a brain disorder that affects movement, vision, speech, and thinking ability (cognition). The signs and symptoms of this disorder usually become apparent in mid- to late adulthood, most often in a person's 60s. Most people with progressive supranuclear palsy survive 5 to 9 years after the disease first appears, although a few affected individuals have lived for more than a decade.
Loss of balance and frequent falls are the most common early signs of progressive supranuclear palsy. Affected individuals have problems with walking, including poor coordination and an unsteady, lurching gait. Other movement abnormalities develop as the disease progresses, including unusually slow movements (bradykinesia), clumsiness, and stiffness of the trunk muscles. These problems worsen with time, and most affected people ultimately require wheelchair assistance.
Progressive supranuclear palsy is also characterised by abnormal eye movements, which typically develop several years after the other movement problems first appear. Restricted up-and-down eye movement (vertical gaze palsy) is a hallmark of this disease. Other eye movement problems include difficulty opening and closing the eyelids, infrequent blinking, and pulling back (retraction) of the eyelids. These abnormalities can lead to blurred vision, an increased sensitivity to light (photophobia), and a staring gaze.
Additional features of progressive supranuclear palsy include slow and slurred speech (dysarthria) and trouble swallowing (dysphagia). Most affected individuals also experience changes in personality and behaviour, such as a general loss of interest and enthusiasm (apathy). They develop problems with cognition, including difficulties with attention, planning, and problem solving. As the cognitive and behavioural problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.
Inheritance patterns
The source lists the following possible inheritance patterns: Pattern unknown; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Progressive supranuclear ophthalmoplegia
PSP
Richardson's syndrome
Steele-Richardson-Olszewski syndrome
Supranuclear palsy, progressive
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Less common second... Uveitis . Multiple sclerosis. Brain injury or tumour. Brain infections (viral encephalitis, Creutzfeldt-Jakob disease (CJD), AIDS , tuberculosis , tetanus ). Parkinson's disease /multiple system atrophy/progressive supranuclear palsy. Reaction to medications - eg, olanzapine , levodopa. Tardive dyskinesia (see below)..
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However, objects. Corneal dystrophies These are a group of progressive conditions which cause a build-up of cloudy material in the cornea. Most are inherited conditions, most affect both eyes and most progress onl... However, it can occur after trauma or eyelid surgery (cicatricial lagophthalmos) or during sleep (nocturnal lagophthalmos). The main.
अधिक पठन और संदर्भ
- प्रगतिशील सुप्रान्यूक्लियर पाल्सी; MedlinePlus, National Library of Medicine.
- Conrad C, Andreadis A, Trojanowski JQ, Dickson DW, Kang D, Chen X, Wiederholt W, Hansen L, Masliah E, Thal LJ, Katzman R, Xia Y, Saitoh T. Genetic evidence for the involvement of tau in progressive supranuclear palsy. Ann Neurol. 1997 Feb;41(2):277-81. doi: 10.1002/ana.410410222.
- Donker Kaat L, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC. Familial aggregation of parkinsonism in progressive supranuclear palsy. Neurology. 2009 Jul 14;73(2):98-105. doi: 10.1212/WNL.0b013e3181a92bcc. Epub 2009 May 20.
- Ferrari R, Ryten M, Simone R, Trabzuni D, Nicolaou N, Hondhamuni G, Ramasamy A, Vandrovcova J; UK Brain Expression Consortium; Weale ME, Lees AJ, Momeni P, Hardy J, de Silva R. Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiol Aging. 2014 Jun;35(6):1514.e1-12. doi: 10.1016/j.neurobiolaging.2014.01.010. Epub 2014 Jan 13.
- Golbe LI. Progressive supranuclear palsy. Semin Neurol. 2014 Apr;34(2):151-9. doi: 10.1055/s-0034-1381736. Epub 2014 Jun 25.
- Hoglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Muller U, Schellenberg GD. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859.
- Melquist S, Craig DW, Huentelman MJ, Crook R, Pearson JV, Baker M, Zismann VL, Gass J, Adamson J, Szelinger S, Corneveaux J, Cannon A, Coon KD, Lincoln S, Adler C, Tuite P, Calne DB, Bigio EH, Uitti RJ, Wszolek ZK, Golbe LI, Caselli RJ, Graff-Radford N, Litvan I, Farrer MJ, Dickson DW, Hutton M, Stephan DA. Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms. Am J Hum Genet. 2007 Apr;80(4):769-78. doi: 10.1086/513320. Epub 2007 Mar 8.
- Williams DR, Lees AJ. Progressive supranuclear palsy: clinicopathological concepts and diagnostic challenges. Lancet Neurol. 2009 Mar;8(3):270-9. doi: 10.1016/S1474-4422(09)70042-0.
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