Progressive supranuclear palsy

Infobox_Disease
Name = Progressive supranuclear palsy


Caption =
DiseasesDB = 10723
ICD10 = ICD10|G|23|1|g|20
ICD9 = ICD9|333.0
ICDO =
OMIM = 601104
MedlinePlus =
eMedicineSubj = neuro
eMedicineTopic = 328
MeshID = D013494

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

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

ymptoms and signs

The initial symptom in two-thirds of cases is loss of balance 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 for PSP, although some of the symptoms can respond to nonspecific measures. The average age at symptoms onset is 63 and survival from that point 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 brain cell's internal structural skeleton.

The principal areas of the brain affected are:
* the basal ganglia, particularly the subthalamic nucleus, substantia nigra and globus pallidus;
* the brainstem, particularly the portion of the midbrain where "supranuclear" eye movement resides;
* the cerebral cortex, particularly that of the frontal lobes;
* the dentate nucleus of the cerebellum;
* and the spinal cord, particularly the area where some control of the bladder and bowel resides.

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. 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

* Actor Dudley Moore, who suffered from progressive supranuclear palsy, increased public awareness of this disease. He died on March 272002 from its complications.
* Lee Philips, the 1950s actor-turned-director of such shows as "Peyton Place" and "The Ghost & Mrs. Muir", also died after suffering from this disease.
* American singer Teresa Brewer ("Music! Music! Music!"), 76, died of this disease on October 17, 2007.

upport 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 is based in the UK.

References

# Richardson JC, Steele J, Olszewski J. Supranuclear ophthalmoplegia, pseudobulbar palsy, nuchal dystonia and dementia. A clinical report on eight cases of "heterogeneous system degeneration". "Trans Am Neurol Assoc" 1963;88:25-9. PMID 14272249.
# Steele JC, Richardson JC, Olszewski J. Progressive supranuclear palsy: a heterogeneous degeneration involving brain stem, basal ganglia and cerebellum with vertical gaze and pseudobulbar palsy, nuchal dystonia and dementia. "Arch Neurol" 1964;10:333-359. PMID 14107684.
# OMIM|601104

External links

* [http://www.psp.org/ The Society for Progressive Supranuclear Palsy ("CurePSP")]
* [http://www.pspeur.org/ European PSP society]
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* [http://news.bbc.co.uk/1/hi/health/medical_notes/461557.stm Medical Notes] at BBC
* [http://www.bcm.edu/neurol/challeng/pat7/summary.html Houston PSP Review] at Baylor College
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