Perry syndrome
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
Perry syndrome is a progressive brain disease that is characterised by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties.
Descrizione
Perry syndrome is a progressive brain disease that is characterised by four major features: a pattern of movement abnormalities known as parkinsonism, psychiatric changes, weight loss, and abnormally slow breathing (hypoventilation). These signs and symptoms typically appear in a person's forties or fifties.
Parkinsonism and psychiatric changes are usually the earliest features of Perry syndrome. Signs of parkinsonism include unusually slow movements (bradykinesia), stiffness, and tremors. These movement abnormalities are often accompanied by changes in personality and behaviour. The most frequent psychiatric changes that occur in people with Perry syndrome include depression, a general loss of interest and enthusiasm (apathy), withdrawal from friends and family, and suicidal thoughts. Many affected individuals also experience significant, unexplained weight loss early in the disease.
Hypoventilation is a later feature of Perry syndrome. Abnormally slow breathing most often occurs at night, causing affected individuals to wake up frequently. As the disease worsens, hypoventilation can result in a life-threatening lack of oxygen and respiratory failure.
People with Perry syndrome typically survive for about 5 years after signs and symptoms first appear. Most affected individuals ultimately die of respiratory failure or pneumonia. Suicide is another cause of death in this condition.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Altri nomi
Parkinsonism with alveolar hypoventilation and mental depression
Related patient information and medicines
Patient information leaflet
Sindrome da anticorpi antifosfolipidi
Antiphospholipid syndrome is sometimes called Hughes' syndrome. It is a disease that affects the blood and makes it more likely to clot than normal - a thrombophilia. Antiphospholipid syndrome (APS) - also called Hughes' syndrome - makes blood more likely than normal to clot (a thrombophilia ). This increases the risk of developing blood clots.
Patient information leaflet
Sindrome da allergia orale
Sindrome da allergia orale causi symptoms around the mouth that are triggered by certain foods. It is associated with other conditions caused by plant allergies, such as hay fever and allergy to birch pollen. It's also called pollen-food syndrom... What is oral allergy syndrome. Oral allergy syndrome (OAS) è an allergic condition which causes itching.
Patient information leaflet
Sindrome da cattura precordiale
Sebbene precordial catch syndrome is a harmless cause of chest pain, there are many other causes of chest pain, some of which are serious and need urgent medical attention. Precordial catch syndrome (PCS) è condition which causes a sharp stabbing pain in the chest. These typically get worse with breathing in, and occur within a small ....
Patient information leaflet
Apnea del sonno
If you have sleep apnoea (also known as obstructive sleep apnoea syndrome), you have many periods when your breathing stops for 10 seconds or more when you sleep. Central sleep apnoea usually has a neurological cause or can be du... This leaflet focuses on obstructive sleep apnoea syndrome (OSAS), which is a sleep ricorrenti where your breathing.
Patient information leaflet
Sindrome nefrosica
Sindrome nefrosica is a condition where the 'filters' in the kidney become 'leaky' and large amounts of protein leak from the blood into the urine. The main symptom is fluid retention (oedema) which is mainly due to the low protein level in the blood. Various diseases can cause nephrotic syndrome, some more serious than others. The most common.
Patient information leaflet
Sindrome coronarica acuta
The term 'acute coronary syndrome' (ACS) covers a range of disorders, including a attacco di cuore (infarto miocardico) e unstable angina, that are caused by a sudden reduction of blood flow to part of the heart muscle. This is usually caused by a blood clot. Sometimes during the coronary angiogram it is possible to clear the blockage to improve.
Ulteriori letture e riferimenti
- Perry syndrome; MedlinePlus, National Library of Medicine.
- Chung EJ, Hwang JH, Lee MJ, Hong JH, Ji KH, Yoo WK, Kim SJ, Song HK, Lee CS, Lee MS, Kim YJ. Expansion of the clinicopathological and mutational spectrum of Perry syndrome. Parkinsonism Relat Disord. 2014 Apr;20(4):388-93. doi: 10.1016/j.parkreldis.2014.01.010. Epub 2014 Jan 22.
- Dulski J, Konno T, Wszolek Z. DCTN1-Related Neurodegeneration. 2010 Sep 30 [updated 2021 Aug 5]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK47027/
- Farrer MJ, Hulihan MM, Kachergus JM, Dachsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilarino-Guell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. DCTN1 mutations in Perry syndrome. Nat Genet. 2009 Feb;41(2):163-5. doi: 10.1038/ng.293. Epub 2009 Jan 11.
- Tsuboi Y, Dickson DW, Nabeshima K, Schmeichel AM, Wszolek ZK, Yamada T, Benarroch EE. Neurodegeneration involving putative respiratory neurons in Perry syndrome. Acta Neuropathol. 2008 Feb;115(2):263-8. doi: 10.1007/s00401-007-0246-1. Epub 2007 Jun 19.
- Wider C, Dachsel JC, Farrer MJ, Dickson DW, Tsuboi Y, Wszolek ZK. Elucidating the genetics and pathology of Perry syndrome. J Neurol Sci. 2010 Feb 15;289(1-2):149-54. doi: 10.1016/j.jns.2009.08.044. Epub 2009 Sep 4.
- Wider C, Dickson DW, Stoessl AJ, Tsuboi Y, Chapon F, Gutmann L, Lechevalier B, Calne DB, Personett DA, Hulihan M, Kachergus J, Rademakers R, Baker MC, Grantier LL, Sujith OK, Brown L, Calne S, Farrer MJ, Wszolek ZK. Pallidonigral TDP-43 pathology in Perry syndrome. Parkinsonism Relat Disord. 2009 May;15(4):281-6. doi: 10.1016/j.parkreldis.2008.07.005. Epub 2008 Aug 23.
- Wider C, Wszolek ZK. Rapidly progressive familial parkinsonism with central hypoventilation, depression and weight loss (Perry syndrome)--a literature review. Parkinsonism Relat Disord. 2008;14(1):1-7. doi: 10.1016/j.parkreldis.2007.07.014. Epub 2007 Sep 17.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.