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January 15, 2019January 15, 2019

Longer ATXN2 Coding Sequence Linked to Earlier TTR-FAP Onset in Val30Met Families, Study Shows

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Length of naturally occurring repeats in the sequence of the ATXN2 gene may affect the age of onset of transthyretin (TTR)-related familial amyloid polyneuropathy (FAP). The study, “Large normal alleles ... Read more

January 8, 2019January 8, 2019

Vyndaqel May Help Halt Neurological Disease Progression in Patients With Val30Met Mutation, Study Reveals

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Early diagnosis and prompt treatment with Vyndaqel (tafamidis) may help halt neurological disease progression in familial amyloid polyneuropathy (FAP) patients who are positive for the Val30Met mutation, clinical analyses of ... Read more

December 21, 2018December 21, 2018

Rising Healthcare Costs Strain EU Budgets Even as New Therapies Flourish

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Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to ... Read more

December 20, 2018December 20, 2018

FAP Patients with Val30Met Mutation Exhibit Differences in Japan, Study Finds

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Familial amyloid polyneuropathy patients with the Val30Met mutation differ in clinical symptoms, gene variants, and age of disease onset between endemic (where the disease is common) and non-endemic areas ... Read more

December 13, 2018December 13, 2018

Patients in France with FAP, Upper Limb Nerve Damage Often Misdiagnosed, Study Suggests

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Familial amyloid polyneuropathy (FAP) with arm (upper limb) involvement is common in France and frequently missed because of incorrect diagnosis, a French study reported. This study, “Upper Limb Onset of ... Read more

December 4, 2018December 4, 2018

FAP Diagnosis Worth Considering in Patients with Neuropathy and Cardiac and Eye Issues, Case Report Shows

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A woman diagnosed with late-onset familial amyloid polyneuropathy (FAP) showed severe sensory and motor neuropathy, or nerve damage, as well as eye and cardiac impairments, a case report describes. ... Read more

November 29, 2018November 29, 2018

Researchers Report First Case of FAP with Chronic Dry Cough in Large Chinese Family

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Researchers have reported the first case of familial amyloid polyneuropathy (FAP) with chronic dry cough — caused by a less common mutation — in a large Chinese family. The ... Read more

November 15, 2018November 15, 2018

Liver Transplant, Vyndaqel Prolong Life of Early-stage FAP Patients, Study Reports

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Liver transplant or therapy with Pfizer‘s Vyndaqel (tafamidis) can substantially extend the lives of people with familial amyloid polyneuropathy (FAP) in early stages of the disease, a Portuguese study has shown. ... Read more

November 6, 2018November 6, 2018

Val30Met FAP Patients’ Loss of Sensation Occurs in Both Upper and Lower Limbs, Study Reports

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Familial amyloid polyneuropathy (FAP) patients who carry the Val30Met mutation experience loss of sensation (numbness), especially sense of touch pressure, rather than heat pain or thermal sensibility, in both their ... Read more

November 1, 2018November 1, 2018

Lengthening of Amyloid Fibrils May Lead to Nerve Cell Loss in FAP Patients, Study Suggests

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The distortion and subsequent atrophy of cells in the peripheral nervous system, due to the accumulation and lengthening of amyloid fibrils, may be behind nerve cell loss in patients ... Read more

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