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Supranuclear palsy, progressive, 2(PSNP2)

MedGen UID:
324446
Concept ID:
C1836148
Disease or Syndrome
Synonyms: PSNP2
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
OMIM®: 609454

Definition

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 characterized 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 behavior, 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 behavioral problems worsen, affected individuals increasingly require help with personal care and other activities of daily living.
[from GHR]

Clinical features

Eyelid apraxia
MedGen UID:
222979
Concept ID:
C1142448
Finding
Retrocollis
MedGen UID:
505269
Concept ID:
CN002310
Finding
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
Diplopia
MedGen UID:
41600
Concept ID:
C0012569
Disease or Syndrome
A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE.
Supranuclear gaze palsy
MedGen UID:
314030
Concept ID:
C1720037
Disease or Syndrome
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Blurred vision
MedGen UID:
504528
Concept ID:
CN000584
Finding
Lack of sharpness of vision resulting in the inability to see fine detail.
Irritability
MedGen UID:
5898
Concept ID:
C0022107
Finding
Abnormal or excessive excitability with easily triggered anger, annoyance, or impatience.
Falls
MedGen UID:
39084
Concept ID:
C0085639
Finding
A fall can change your life. If you're elderly, it can lead to disability and a loss of independence. If your bones are fragile from osteoporosis, you could break a bone, often a hip. But aging alone doesn't make people fall. Diabetes and heart disease affect balance. So do problems with circulation, thyroid or nervous systems. Some medicines make people dizzy. Eye problems or alcohol can be factors. Any of these things can make a fall more likely. Babies and young children are also at risk of falling - off of furniture and down stairs, for example. Falls and accidents seldom just happen. Taking care of your health by exercising and getting regular eye exams and physicals may help reduce your chance of falling. Getting rid of tripping hazards in your home and wearing nonskid shoes may also help. To reduce the chances of breaking a bone if you do fall, make sure that you get enough calcium and vitamin D. . NIH: National Institute on Aging.
Apathy
MedGen UID:
612589
Concept ID:
C0436596
Finding
Eyelid apraxia
MedGen UID:
222979
Concept ID:
C1142448
Finding
Axial dystonia
MedGen UID:
373027
Concept ID:
C1836149
Finding
Gait imbalance
MedGen UID:
373028
Concept ID:
C1836150
Finding
Frontolimbic dementia
MedGen UID:
324447
Concept ID:
C1836151
Finding
Frontal release signs
MedGen UID:
322839
Concept ID:
C1836153
Finding
Dysarthria
MedGen UID:
333395
Concept ID:
C1839743
Finding
Neuronal loss in central nervous system
MedGen UID:
342515
Concept ID:
C1850496
Finding
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Memory impairment
MedGen UID:
368424
Concept ID:
C1963167
Finding
Photophobia
MedGen UID:
504524
Concept ID:
CN000575
Finding
Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light.
Parkinsonism
MedGen UID:
504793
Concept ID:
CN001191
Finding
Characteristic neurologic anomaly resulting form degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Rigidity
MedGen UID:
505075
Concept ID:
CN001866
Finding
Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.
Bradykinesia
MedGen UID:
505077
Concept ID:
CN001869
Finding
Bradykinesia literally means slow movement, and is used clinically to denote a slowness in the execution of movement (in contrast to hypokinesia, which is used to refer to slowness in the initiation of movement).
Gliosis
MedGen UID:
505139
Concept ID:
CN001968
Finding
The presence of gliosis in the central nervous system.
Postural tremor
MedGen UID:
505141
Concept ID:
CN001971
Finding
A type of tremors that is triggered by holding a limb in a fixed position.
Neurofibrillary tangles
MedGen UID:
505147
Concept ID:
CN001981
Finding
Pathological protein aggregates formed by hyperphosphorylation of a microtubule-associated protein known as tau, causing it to aggregate in an insoluble form.
Akinesia
MedGen UID:
505189
Concept ID:
CN002092
Finding
Inability to initiate changes in activity or movement and to perform ordinary volitional movements rapidly and easily.
Granulovacuolar degeneration
MedGen UID:
505265
Concept ID:
CN002297
Finding
Retrocollis
MedGen UID:
505269
Concept ID:
CN002310
Finding
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.
Dysphagia
MedGen UID:
342867
Concept ID:
C1853381
Finding
Retrocollis
MedGen UID:
505269
Concept ID:
CN002310
Finding
A form of torticollis in which the head is drawn back, either due to a permanent contractures of neck extensor muscles, or to a spasmodic contracture.

Recent clinical studies

Etiology

Kim SL, Lee MJ, Lee MS
Gait Posture 2014 Sep;40(4):605-9. Epub 2014 Jul 17 doi: 10.1016/j.gaitpost.2014.07.005. [Epub ahead of print] PMID: 25088758
Jecmenica-Lukic M, Petrovic IN, Pekmezovic T, Kostic VS
J Neurol 2014 Aug;261(8):1575-83. Epub 2014 Jun 3 doi: 10.1007/s00415-014-7384-x. [Epub ahead of print] PMID: 24888315
Höglinger GU, Huppertz HJ, Wagenpfeil S, Andrés MV, Belloch V, León T, Del Ser T; TAUROS MRI Investigators
Mov Disord 2014 Apr;29(4):479-87. Epub 2014 Jan 31 doi: 10.1002/mds.25815. [Epub ahead of print] PMID: 24488721
Kanazawa M, Tada M, Onodera O, Takahashi H, Nishizawa M, Shimohata T
Parkinsonism Relat Disord 2013 Dec;19(12):1149-51. Epub 2013 Aug 3 doi: 10.1016/j.parkreldis.2013.07.019. [Epub ahead of print] PMID: 23916652
Josephs KA, Xia R, Mandrekar J, Gunter JL, Senjem ML, Jack CR Jr, Whitwell JL
Mov Disord 2013 Jul;28(8):1117-24. Epub 2013 Apr 8 doi: 10.1002/mds.25437. [Epub ahead of print] PMID: 23568852

Diagnosis

Jecmenica-Lukic M, Petrovic IN, Pekmezovic T, Kostic VS
J Neurol 2014 Aug;261(8):1575-83. Epub 2014 Jun 3 doi: 10.1007/s00415-014-7384-x. [Epub ahead of print] PMID: 24888315
Ling H, Kara E, Revesz T, Lees AJ, Plant GT, Martino D, Houlden H, Hardy J, Holton JL
Acta Neuropathol Commun 2014 Feb 21;2:24. doi: 10.1186/2051-5960-2-24. [Epub ahead of print] PMID: 24559032Free PMC Article
Caroppo P, Le Ber I, Clot F, Rivaud-Péchoux S, Camuzat A, De Septenville A, Boutoleau-Bretonnière C, Mourlon V, Sauvée M, Lebouvier T, Bonnet AM, Levy R, Vercelletto M, Brice A; French Clinical and Genetic Research Network on Frontotemporal Dementia/Frontotemporal Dementia–Amyotrophic Lateral Sclerosis
JAMA Neurol 2014 Feb;71(2):208-15. doi: 10.1001/jamaneurol.2013.5100. PMID: 24343258Free PMC Article
dell'Aquila C, Zoccolella S, Cardinali V, de Mari M, Iliceto G, Tartaglione B, Lamberti P, Logroscino G
Parkinsonism Relat Disord 2013 Nov;19(11):980-5. Epub 2013 Aug 19 doi: 10.1016/j.parkreldis.2013.06.014. [Epub ahead of print] PMID: 23968651
Kanazawa M, Tada M, Onodera O, Takahashi H, Nishizawa M, Shimohata T
Parkinsonism Relat Disord 2013 Dec;19(12):1149-51. Epub 2013 Aug 3 doi: 10.1016/j.parkreldis.2013.07.019. [Epub ahead of print] PMID: 23916652

Therapy

Gerson JE, Sengupta U, Lasagna-Reeves CA, Guerrero-Muñoz MJ, Troncoso J, Kayed R
Acta Neuropathol Commun 2014 Jun 14;2:73. doi: 10.1186/2051-5960-2-73. [Epub ahead of print] PMID: 24927818Free PMC Article
Boxer AL, Lang AE, Grossman M, Knopman DS, Miller BL, Schneider LS, Doody RS, Lees A, Golbe LI, Williams DR, Corvol JC, Ludolph A, Burn D, Lorenzl S, Litvan I, Roberson ED, Höglinger GU, Koestler M, Jack CR Jr, Van Deerlin V, Randolph C, Lobach IV, Heuer HW, Gozes I, Parker L, Whitaker S, Hirman J, Stewart AJ, Gold M, Morimoto BH; AL-108-231 Investigators
Lancet Neurol 2014 Jul;13(7):676-85. Epub 2014 May 27 doi: 10.1016/S1474-4422(14)70088-2. [Epub ahead of print] PMID: 24873720Free PMC Article
Tolosa E, Litvan I, Höglinger GU, Burn D, Lees A, Andrés MV, Gómez-Carrillo B, León T, Del Ser T; TAUROS Investigators
Mov Disord 2014 Apr;29(4):470-8. Epub 2014 Feb 14 doi: 10.1002/mds.25824. [Epub ahead of print] PMID: 24532007
Höglinger GU, Huppertz HJ, Wagenpfeil S, Andrés MV, Belloch V, León T, Del Ser T; TAUROS MRI Investigators
Mov Disord 2014 Apr;29(4):479-87. Epub 2014 Jan 31 doi: 10.1002/mds.25815. [Epub ahead of print] PMID: 24488721
Armstrong RA, Cairns NJ
Neurol Sci 2013 Mar;34(3):337-44. Epub 2012 Mar 13 doi: 10.1007/s10072-012-1006-0. [Epub ahead of print] PMID: 22411688

Prognosis

Jecmenica-Lukic M, Petrovic IN, Pekmezovic T, Kostic VS
J Neurol 2014 Aug;261(8):1575-83. Epub 2014 Jun 3 doi: 10.1007/s00415-014-7384-x. [Epub ahead of print] PMID: 24888315
Reginold W, Lang AE, Marras C, Heyn C, Alharbi M, Mikulis DJ
Parkinsonism Relat Disord 2014 Feb;20(2):222-5. Epub 2013 Oct 12 doi: 10.1016/j.parkreldis.2013.10.002. [Epub ahead of print] PMID: 24239142
dell'Aquila C, Zoccolella S, Cardinali V, de Mari M, Iliceto G, Tartaglione B, Lamberti P, Logroscino G
Parkinsonism Relat Disord 2013 Nov;19(11):980-5. Epub 2013 Aug 19 doi: 10.1016/j.parkreldis.2013.06.014. [Epub ahead of print] PMID: 23968651
Kanazawa M, Tada M, Onodera O, Takahashi H, Nishizawa M, Shimohata T
Parkinsonism Relat Disord 2013 Dec;19(12):1149-51. Epub 2013 Aug 3 doi: 10.1016/j.parkreldis.2013.07.019. [Epub ahead of print] PMID: 23916652
Whitwell JL, Xu J, Mandrekar J, Gunter JL, Jack CR Jr, Josephs KA
Mov Disord 2012 Dec;27(14):1801-4. Epub 2012 Mar 13 doi: 10.1002/mds.24970. [Epub ahead of print] PMID: 22415715

Clinical prediction guides

Kim SL, Lee MJ, Lee MS
Gait Posture 2014 Sep;40(4):605-9. Epub 2014 Jul 17 doi: 10.1016/j.gaitpost.2014.07.005. [Epub ahead of print] PMID: 25088758
Höglinger GU, Huppertz HJ, Wagenpfeil S, Andrés MV, Belloch V, León T, Del Ser T; TAUROS MRI Investigators
Mov Disord 2014 Apr;29(4):479-87. Epub 2014 Jan 31 doi: 10.1002/mds.25815. [Epub ahead of print] PMID: 24488721
dell'Aquila C, Zoccolella S, Cardinali V, de Mari M, Iliceto G, Tartaglione B, Lamberti P, Logroscino G
Parkinsonism Relat Disord 2013 Nov;19(11):980-5. Epub 2013 Aug 19 doi: 10.1016/j.parkreldis.2013.06.014. [Epub ahead of print] PMID: 23968651
Kanazawa M, Tada M, Onodera O, Takahashi H, Nishizawa M, Shimohata T
Parkinsonism Relat Disord 2013 Dec;19(12):1149-51. Epub 2013 Aug 3 doi: 10.1016/j.parkreldis.2013.07.019. [Epub ahead of print] PMID: 23916652
Josephs KA, Xia R, Mandrekar J, Gunter JL, Senjem ML, Jack CR Jr, Whitwell JL
Mov Disord 2013 Jul;28(8):1117-24. Epub 2013 Apr 8 doi: 10.1002/mds.25437. [Epub ahead of print] PMID: 23568852

Recent systematic reviews

Sako W, Murakami N, Izumi Y, Kaji R
Mov Disord 2014 Nov;29(13):1599-605. Epub 2014 Sep 25 doi: 10.1002/mds.26036. [Epub ahead of print] PMID: 25258345
Armstrong MJ, Litvan I, Lang AE, Bak TH, Bhatia KP, Borroni B, Boxer AL, Dickson DW, Grossman M, Hallett M, Josephs KA, Kertesz A, Lee SE, Miller BL, Reich SG, Riley DE, Tolosa E, Tröster AI, Vidailhet M, Weiner WJ
Neurology 2013 Jan 29;80(5):496-503. doi: 10.1212/WNL.0b013e31827f0fd1. PMID: 23359374Free PMC Article
Lee W, Williams DR, Storey E
Mov Disord 2012 Sep 1;27(10):1243-54. Epub 2012 Aug 13 doi: 10.1002/mds.25113. [Epub ahead of print] PMID: 22890580
Hoppitt T, Pall H, Calvert M, Gill P, Yao G, Ramsay J, James G, Conduit J, Sackley C
Neuroepidemiology 2011;36(1):19-28. Epub 2010 Nov 17 doi: 10.1159/000321712. [Epub ahead of print] PMID: 21088431Free PMC Article
Rampello L, Buttà V, Raffaele R, Vecchio I, Battaglia G, Cormaci G, Alvano A
Neurobiol Dis 2005 Nov;20(2):179-86. doi: 10.1016/j.nbd.2005.03.013. PMID: 16242626

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