Variably protease-sensitive prionopathy

Variably protease-sensitive prionopathy
Synonyms
Pronounce
Field
Symptoms	Dementia, behavioral and psychiatric symptoms, ataxia, parkinsonism
Complications
Onset	70 years
Duration
Types
Causes	Prion
Risks
Diagnosis
Differential diagnosis
Prevention
Treatment
Medication
Prognosis	Average survival 24 months
Frequency
Deaths

Variably protease-sensitive prionopathy (VPSPr) (formerly known as Protease Sensitive Prionopathy) is a sporadic prion protein disease first described in an abstract for a conference on prions in 2006, and this study was published in a 2008 report on 11 cases. The study was conducted by Gambetti P., Zou W.Q., and coworkers from the United States National Prion Disease Pathology Surveillance Center.<ref name="pmid18571782">,

 A novel human disease with abnormal prion proteining sensitive to protease, 
 Ann. Neurol., 
 
 Vol. 63(Issue: 6),
 pp. 697–708,
 DOI: 10.1002/ana.21420,
 PMID: 18571782,
 PMC: 2767200,</ref><ref>

The Merck Manual - Variably Protease-Sensitive Prionopathy (VPSPr)(link). {{{website}}}. Merck Sharp & Dohme Corp., a subsidiary of Merck & Co..

</ref> It was first identified as a distinct disease in 2010 by Zou W.Q. and coworkers from the United States National Prion Disease Pathology Surveillance Center.<ref>,

 Variably protease-sensitive prionopathy: A new sporadic disease of the prion protein, 
 Annals of Neurology, 
 2010,
 Vol. 68(Issue: 2),
 pp. 162–172,
 DOI: 10.1002/ana.22094,
 PMID: 20695009,
 PMC: 3032610,</ref>

VPSPr is very rare, occurring in just 2 or 3 out of every 100 million people.<ref> ,

 Variably Protease-Sensitive Prionopathy (VPSPr) - Neurologic Disorders - Merck Manuals Professional Edition Full text, 
 Merck Manuals Professional Edition, 
  
  
  
  
 Accessed on: 2018-03-04.

</ref> As of 2018, fourteen cases have been reported in the UK.<ref>

Creutzfeldt - Jakob disease in the UK (By calendar year)(link). '.

Accessed 4 July 2018.

</ref> It has similarities to Creutzfeldt–Jakob disease, but clinical manifestations differ somewhat, and the abnormal prion protein (PrP) is less resistant to digestion by proteases; some variants are more sensitive to proteases than others, hence the name: variably protease-sensitive.

Patients present with behavioral and psychiatric symptoms, speech deficits (aphasia and/or dysarthria) and progressive cognitive and motor decline (dementia, ataxia, parkinsonism, psychosis, aphasia and mood disorder). Average age at onset is 70 years, and duration of survival is 24 months. About 40% of patients have a family history of dementia. Like CJD, it can be mistaken for Alzheimer's dementia.

Diagnosis is difficult, as pathognomonic signs on MRI such as cortical ribboning or hockey stick sign, periodic sharp wave complexes on EEG, and tests for 14-3-3 protein and tau protein are usually not helpful, and no mutations have been observed in the coding region of the PrP gene, unlike CJD and Variant CJD.<ref name="pmid18570344">,

 A new prionopathy, 
 Ann. Neurol., 
 
 Vol. 63(Issue: 6),
 pp. 677–8,
 DOI: 10.1002/ana.21447,
 PMID: 18570344,</ref> The diagnosis can be made on pathological examination. There are unique microscopic and immunohistochemical features, and the prions cannot be digested using proteases. Because 8 out of 10 patients had a positive family history of dementia in the original study, a genetic cause was suspected.

Some have suggested the disease may be a sporadic form of GSS.<ref>,

 Variable Protease-Sensitive Prionopathy Transmission to Bank Voles, 
 Emerging Infectious Diseases, 
 2019,
 Vol. 25,
 pp. 73–81,
 DOI: 10.3201/eid2501.180807,
 
 PMC: 6302590,</ref>

See also

• Creutzfeldt–Jakob disease

External links

Caroline Parkinson. Brain disease could affect more people, research finds(link). {{{website}}}. BBC News. 13 August 2010.

Portions of content adapted from Wikipedia's article on Variably protease-sensitive prionopathy which is released under the CC BY-SA 3.0.

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