Progressive supranuclear palsy: Wikis

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Progressive supranuclear palsy
Classification and external resources
ICD-10 G23.1
ICD-9 333.0
OMIM 601104
DiseasesDB 10723
eMedicine neuro/328
MeSH D013494

Progressive supranuclear palsy (PSP) (or the Steele-Richardson-Olszewski syndrome, after the Canadian physicians who described it in 1963) is a rare degenerative disease involving the gradual deterioration and death of selected areas of the brain.[1][2]

Males and females are affected approximately equally and there is no racial, geographical or occupational predilection. Approximately 6 people per 100,000 population have PSP.

It has been described as a tauopathy.[3]

Contents

Symptoms and signs

The initial symptom in two-thirds of cases is loss of balance, lunging forward when mobilising, speed-walking, knocking into objects and people and falls.

Other common early symptoms are changes in personality, general slowing of movement, and visual symptoms.

Later symptoms and signs are dementia (typically including loss of inhibition and ability to organize information), slurring of speech, difficulty swallowing, and difficulty moving the eyes, particularly in the vertical direction. The latter accounts for some of the falls experienced by these patients as they are unable to look up or down.

Some of the other signs are poor eyelid function, contracture of the facial muscles, a backward tilt of the head with stiffening of the neck muscles, sleep disruption, urinary incontinence and constipation.

The visual symptoms are of particular importance in the diagnosis of this disorder. Notably, the ophthalmoplegia experienced by these patients mainly concerns voluntary eye movement. Involuntary eye movement, as elicited by Bell's phenomenon, for instance, may be closer to normal. On close inspection, eye movements called "square wave jerks" may be visible when the patient fixes at distance. These are fine movements, similar to nystagmus, except that they are not rhythmic in nature. Difficulties with convergence, where the eyes come closer together while focusing on something near, like the pages of a book, is typical. Because the eyes have trouble coming together to focus on things at near, the patient may complain of double vision when reading.

Cardinal Manifestations:

  • Supranuclear ophthalmoplegia
  • Neck dystonia
  • Parkinsonism
  • Pseudobulbar palsy
  • Behavioral and Cognitive impairment
  • Imbalance and Difficulties walking
  • Frequent Falls

Prognosis

There is currently no effective treatment or cure for PSP, although some of the symptoms can respond to nonspecific measures. The average age at symptoms onset is 63 and survival from onset averages 7 years with a wide variance.

Differential diagnosis

PSP is frequently misdiagnosed as Parkinson's disease because of the slowed movements and gait difficulty, or as Alzheimer's disease because of the behavioral changes. It is one of a number of diseases collectively referred to as Parkinson plus syndromes.

Pathophysiology

The affected brain cells are both neurons and glial cells. The neurons display neurofibrillary tangles, which are clumps of tau protein, a normal part of a brain cell's internal structural skeleton. These tangles are often different from those seen in Alzheimer's disease, but may be structurally similar when they occur in the cerebral cortex.[4] Their chemical composition is usually different, however, and is similar to that of tangles seen in corticobasal degeneration.[5] Lewy bodies are seen in some cases, but it is not clear whether this is a variant or an independent co-existing process.[6][7]

The principal areas of the brain affected are:

Some consider PSP, corticobasal degeneration, and frontotemporal dementia to be variations of the same disease.[8], [9] Others consider them separate diseases.[10], [11]

Genetics

Fewer than 1% of those with PSP have a family member with the same disorder. A variant in the gene for tau protein called the H1 haplotype, located on chromosome 17, has been linked to PSP.[12]

Nearly all people with PSP received a copy of that variant from each parent, but this is true of about two-thirds of the general population. Therefore, the H1 haplotype appears to be necessary but not sufficient to cause PSP. Other genes, as well as environmental toxins are being investigated as other possible contributors to the cause of PSP.

Notable cases

Support groups

Several international organizations serve the needs of patients with PSP and their families and support research. The Society for PSP ("CurePSP") is based in the US and the PSP Association (PSP-Europe Association) is based in the UK. The PSP-France association is based in Paris.

References

  1. ^ Richardson JC, Steele J, Olszewski J (1963). "Supranuclear ophthalmoplegia, pseudobulbar palsy, nuchal dystonia and dementia. A clinical report on eight cases of 'heterogeneous system degeneration'". Transactions of the American Neurological Association 88: 25–9. PMID 14272249. 
  2. ^ Steele JC, Richardson JC, Olszewski J (April 1964). "Progressive supranuclear palsy: a heterogeneous degeneration involving brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia". Archives of Neurology 10: 333–59. PMID 14107684. http://archneur.ama-assn.org/cgi/pmidlookup?view=long&pmid=14107684. 
  3. ^ Rizzo G, Martinelli P, Manners D, et al. (October 2008). "Diffusion-weighted brain imaging study of patients with clinical diagnosis of corticobasal degeneration, progressive supranuclear palsy and Parkinson's disease". Brain 131 (Pt 10): 2690–700. doi:10.1093/brain/awn195. PMID 18819991. http://brain.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=18819991. 
  4. ^ Amano N, Iwabuchi K, Yokoi S (January 1989). "[The reappraisal study of the ultrastructure of Alzheimer's neurofibrillary tangles in three cases of progressive supranuclear palsy]" (in Japanese). Nō to Shinkei 41 (1): 35–44. PMID 2655673. 
  5. ^ Luc Buée; André Delacourte (1999). Brain Pathology 9: 681-693. PMID 10517507. Comparative Biochemistry of Tau in Progressive Supranuclear Palsy, Corticobasal Degeneration, FTDP-17 and Pick’s Disease. 
  6. ^ Uchikado H, DelleDonne A, Ahmed Z, Dickson DW (April 2006). "Lewy bodies in progressive supranuclear palsy represent an independent disease process". Journal of Neuropathology and Experimental Neurology 65 (4): 387–95. doi:10.1097/01.jnen.0000218449.17073.43. PMID 16691119. 
  7. ^ Keith-Rokosh J, Ang LC (November 2008). "Progressive supranuclear palsy: a review of co-existing neurodegeneration". The Canadian Journal of Neurological Sciences 35 (5): 602–8. PMID 19235444. http://cjns.metapress.com/openurl.asp?genre=article&issn=0317-1671&volume=35&issue=5&spage=602. 
  8. ^ Kertesz A, Munoz D (2004). "Relationship between frontotemporal dementia and corticobasal degeneration/progressive supranuclear palsy". Dementia and Geriatric Cognitive Disorders 17 (4): 282–6. doi:10.1159/000077155. PMID 15178937. 
  9. ^ Omi Katsuse1, Eizo Iseki1 , Tetsuaki Arai, Haruhiko Akiyama, Takashi Togo1, Hirotake Uchikado1, Masanori Kato, Rohan de Silva, Andrew Lees and Kenji Kosaka1 (September 2003). Acta Neuropathologica 106 (3): 251-260. PMID 12802605. 4-repeat tauopathy sharing pathological and biochemical features of corticobasal degeneration and progressive supranuclear palsy. 
  10. ^ Hattori M, Hashizume Y, Yoshida M (August 2003). "Distribution of astrocytic plaques in the corticobasal degeneration brain and comparison with tuft-shaped astrocytes in the progressive supranuclear palsy brain". Acta Neuropathologica 106 (2): 143–9. doi:10.1007/s00401-003-0711-4. PMID 12732936. 
  11. ^ Komori T, Arai N, Oda M, Nakayama H, Mori H, Yagishita S, Takahashi T, Amano N, Murayama S, Murakami S, Shibata N, Kobayashi M, Sasaki S, Iwata M. (Oct 1998). Acta Neuropathologica 96 (4): 401-8. PMID 9797005. Astrocytic plaques and tufts of abnormal fibers do not coexist in corticobasal degeneration and progressive supranuclear palsy. 
  12. ^ Online 'Mendelian Inheritance in Man' (OMIM) 601104
  13. ^ ""Teel Bivins Services Held Today in Amarillo, October 29, 2009". Texas Insider. http://texasinsider.org. Retrieved October 30, 2009. 
  14. ^ "Dr Anne Turner". Dignity in Dying. http://www.dignityindying.org.uk/personal-stories/uk/south-west/bath/dr-anne-turner-story-9.html. Retrieved 2009-01-25. 

External links

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