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Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe
| Content Provider | Scilit |
|---|---|
| Author | Parman, Yesim Adams, David Obici, Laura Galán, Lucía Guergueltcheva, Velina Suhr, Ole Coelho, Teresa |
| Copyright Year | 2016 |
| Description | Journal: Current opinion in neurology Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a highly disabling, life-threatening disease characterized by progressive sensorimotor and autonomic neuropathy. The profile of the disease across Europe is inadequately understood at present.The incidence and clinical presentation of TTR-FAP varies widely within Europe, with early and late-onset disease subtypes. In those regions in which the disease is endemic (Portugal, Sweden, Cyprus, and Majorca), a Val30Met substitution in the TTR gene is the predominant genetic cause, whereas in the rest of Europe, cases of TTR-FAP are mainly sporadic with genetic heterogeneity. Current management strategies lack cohesion and patients can experience years of misdiagnosis and suboptimal treatment.The article aims to disseminate the findings and recommendations from two recent meetings of the European Network for TTR-FAP (ATTReuNET), a panel comprising representatives from 10 European countries (Bulgaria, Cyprus, France, Germany, Italy, the Netherlands, Portugal, Spain, Sweden, and Turkey) with expertise in the diagnosis and management of TTR-FAP. We explore the epidemiology and genetic mark of TTR-FAP across Europe and assess current management strategies, with a view to developing an alternative framework - a networked approach to disease management with an emphasis on collaboration and sharing of best practice. |
| Related Links | http://europepmc.org/articles/pmc4739317?pdf=render https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739317/pdf |
| ISSN | 13507540 |
| e-ISSN | 14736551 |
| DOI | 10.1097/wco.0000000000000288 |
| Journal | Current opinion in neurology |
| Issue Number | Supplement |
| Volume Number | 29 |
| Language | English |
| Publisher | Ovid Technologies (Wolters Kluwer Health) |
| Publisher Date | 2016-02-01 |
| Access Restriction | Open |
| Subject Keyword | Journal: Current opinion in neurology Clinical Neurology Transthyretin Familial Amyloid Polyneuropathy |
| Content Type | Text |
| Resource Type | Article |
| Subject | Neurology Neurology (clinical) |