Supranuclear Palsy, Progressive, 1 (PSNP1)

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Disease Ontology 12 DOID:678 OMIM 56 601104 KEGG 36 H00077 MeSH 43 D013494 NCIt 49 C85028 SNOMED-CT 67 192976002 ICD10 32 G23.1

MESH via Orphanet 44 D013494 ICD10 via Orphanet 33 G23.1 UMLS via Orphanet 72 C0038868 Orphanet 58 ORPHA683 MedGen 41 C0038868 C4551863 SNOMED-CT via HPO 68 111516008 16046003 161898004 162294008 1912002 20602000 21061000119107 22631008 229721007 246622003 246636008 246773002 24982008 26079004 263681008 278849000 288939007 29164008 32798002 33994004 35489007 359580009 386807006 394616008 399317006 404686001 40739000 409668002 420675003 423142006 52448006 55533009 59026006 62415009 78667006 8011004 81415000 85775002 87486003 88052002 90506004 more UMLS 71 C0038868 C2931887

MedlinePlus : ⁴² What is progressive supranuclear palsy (PSP)? Progressive supranuclear palsy (PSP) is a rare brain disease. It happens because of damage to nerve cells in the brain. PSP affects your movement, including control of your walking and balance. It also affects your thinking and eye movement. PSP is progressive, which means that it gets worse over time. What causes progressive supranuclear palsy (PSP)? The cause of PSP is unknown. In rare cases, the cause is a mutation in a certain gene. One sign of PSP is abnormal clumps of tau in nerve cells in the brain. Tau is a protein in your nervous system, including in nerve cells. Some other diseases also cause a buildup of tau in the brain, including Alzheimer's disease. Who is at risk for progressive supranuclear palsy (PSP)? PSP usually affects people over 60, but in some cases it can start earlier. It is more common in men. What are the symptoms of progressive supranuclear palsy (PSP)? Symptoms are very different in each person, but they may include A loss of balance while walking. This is often the first symptom. Speech problems Trouble swallowing A blurring of vision and problems controlling eye movement Changes in mood and behavior, including depression and apathy (a loss of interest and enthusiasm) Mild dementia How is progressive supranuclear palsy (PSP0 diagnosed? There is no specific test for PSP. It can be difficult to diagnose, because the symptoms are similar to other diseases such as Parkinson's disease and Alzheimer's disease. To make a diagnosis, your health care provider will take your medical history and do physical and neurological exams. You may have an MRI or other imaging tests. What are the treatments for progressive supranuclear palsy (PSP)? There is currently no effective treatment for PSP. Medicines may reduce some symptoms. Some non-drug treatments, such as walking aids and special glasses, may also help. People with severe swallowing problems may need gastrostomy. This is a surgery to insert a feeding tube into the stomach. PSP gets worse over time. Many people become severely disabled within three to five years after getting it. PSP isn't life-threatening on its own. It can still be be dangerous, because it increases your risk of pneumonia, choking from swallowing problems, and injuries from falling. But with good attention to medical and nutritional needs, many people with PSP can live 10 or more years after the first symptoms of the disease. NIH: National Institute of Neurological Disorders and Stroke

MalaCards based summary : Supranuclear Palsy, Progressive, 1, also known as progressive supranuclear palsy, is related to frontotemporal lobar degeneration with tdp43 inclusions, grn-related and perry syndrome, and has symptoms including seizures, photophobia and tremor. An important gene associated with Supranuclear Palsy, Progressive, 1 is MAPT (Microtubule Associated Protein Tau), and among its related pathways/superpathways are Parkinson disease and Circadian entrainment. The drugs Promethazine and Suvorexant have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and testes, and related phenotypes are dysphagia and unsteady gait

Disease Ontology : ¹² A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain.

Genetics Home Reference : ²⁵ 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.

NIH Rare Diseases : ⁵² Progressive supranuclear palsy (PSP) is a degenerative neurologic disease due to damage to nerve cells in the brain. Signs and symptoms vary but may include loss of balance; blurring of vision; problems controlling eye movement; changes in mood, behavior and judgment; cognitive decline; and slowing and slurred speech. PSP is often misdiagnosed as Parkinson disease due to similar symptoms. Onset is usually after age 60 but may occur earlier. Most cases of PSP appear to be sporadic , but familial cases have been reported. Some cases have been found to be caused by a mutation in the MAPT gene , and other genetic factors are being studied. There is currently no effective treatment for PSP, and symptoms usually do not respond to medications. Research regarding potential treatments is ongoing.

OMIM : ⁵⁶ Progressive supranuclear palsy (PSP) is the second most frequent cause of degenerative parkinsonism. In addition to parkinsonism, the clinical symptoms include early postural instability, supranuclear gaze palsy, and cognitive decline. Neuropathologically, the disorder is characterized by abundant neurofibrillary tangles, which differ in both distribution and composition from those associated with Alzheimer disease. In progressive supranuclear palsy, the tangles are primarily localized to subcortical regions and are found in both neurons and glia, whereas in Alzheimer disease they are more widespread, largely cortical, and limited to neurons. They also have different characteristics at the ultrastructural level (Baker et al., 1999). Kertesz (2003) suggested the term 'Pick complex' to represent the overlapping syndromes of frontotemporal dementia (FTD; 600274), primary progressive aphasia (PPA), corticobasal degeneration (CBD), progressive supranuclear palsy, and FTD with motor neuron disease. He noted that frontotemporal dementia may also be referred to as 'clinical Pick disease,' and that the term 'Pick disease' (172700) should be restricted to the pathologic finding of Pick bodies. (601104)

NINDS : ⁵³ Progressive supranuclear palsy (PSP) is a rare brain disorder that causes serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. One of the classic signs of the disease is an inability to aim the eyes properly, which occurs because of lesions in the area of the brain that coordinates eye movements. Some individuals describe this effect as a blurring. Affected individuals often show alterations of mood and behavior, including depression and apathy as well as progressive mild dementia. The disorder's long name indicates that the disease begins slowly and continues to get worse (progressive), and causes weakness (palsy) by damaging certain parts of the brain above pea-sized structures called nuclei that control eye movements (supranuclear). PSP was first described as a distinct disorder in 1964, when three scientists published a paper that distinguished the condition from Parkinson's disease. It is sometimes referred to as Steele-Richardson-Olszewski syndrome, reflecting the combined names of the scientists who defined the disorder. Although PSP gets progressively worse, no one dies from PSP itself.

KEGG : ³⁶ Progressive supranuclear palsy (PSP) is a progressing degenerative disease belonging to the family of tauophaties caused by abnormalities in the microtubule-associated protein, tau. PSP presents with an atypical parkinsonism characterized by progressive axial rigidity, vertical gaze palsy, dysarthria and dysphagia. Although the majority of cases of progressive supranuclear palsy appear to be sporadic, the scarcity of familial cases may lack of recognition of the variable phenotypic expression of PSP. One in every 100,000 Americans over the age of 60 have PSP and patients are usually middle-aged or elderly, and men are affected more often than women.

UniProtKB/Swiss-Prot : ⁷³ Progressive supranuclear palsy 1: Characterized by akinetic-rigid syndrome, supranuclear gaze palsy, pyramidal tract dysfunction, pseudobulbar signs and cognitive capacities deterioration. Neurofibrillary tangles and gliosis but no amyloid plaques are found in diseased brains. Most cases appear to be sporadic, with a significant association with a common haplotype including the MAPT gene and the flanking regions. Familial cases show an autosomal dominant pattern of transmission with incomplete penetrance; genetic analysis of a few cases showed the occurrence of tau mutations, including a deletion of Asn-613.

Wikipedia : ⁷⁴ Progressive supranuclear palsy (PSP) is a degenerative disease involving the gradual deterioration and... more...

Clinical features from OMIM:

601104

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