Electrophysiological features of familial amyloid polyneuropathy in endemic area
نویسندگان
چکیده
منابع مشابه
Familial amyloid polyneuropathy.
PURPOSE OF REVIEW Transthyretin familial amyloid polyneuropathy is the most disabling hereditary polyneuropathy of adult onset because of a point mutation of transthyretin gene. This review updates our knowledge about natural history of the disease, phenotypes, diagnosis tools for small and large fibers involvement, expert's consensus for both symptomatic and asymptomatic follow-up, and treatme...
متن کاملFamilial amyloid polyneuropathy.
Familial amyloid polyneuropathies (FAPs) are a group of life-threatening multisystem disorders transmitted as an autosomal dominant trait. Nerve lesions are induced by deposits of amyloid fibrils, most commonly due to mutated transthyretin (TTR). Less often the precursor of amyloidosis is mutant apolipoprotein A-1 or gelsolin. The first identified cause of FAP-the TTR Val30Met mutation-is still...
متن کاملEpidemiology of Familial Amyloid Polyneuropathy in Bulgaria
Methods Four mutations have been found in the country so far: Glu89Gln, Ser77Phe, Val30Met, Ser52Pro. Glu89Gln is the most frequent mutation affecting 48 different families. Selective genetic screening program is performed in the affected families. A total of 261 individuals belonging to affected families were examined. All individuals who took part in the screening program signed an informed c...
متن کاملTransthyretin-Related Familial Amyloid Polyneuropathy (TTR-FAP): A Single-Center Experience in Sicily, an Italian Endemic Area
BACKGROUND Familial amyloid polyneuropathy related to transthyretin gene (TTR-FAP) is a life-threatening disease transmitted as an autosomal dominant trait. Val30Met mutation accounts for the majority of the patients with large endemic foci especially in Portugal, Sweden and Japan. However, more than one hundred other mutations have been described worldwide. A great phenotypic variability among...
متن کاملTreatment by pacemaker in familial amyloid polyneuropathy.
Amyloid deposits often involve the heart and cause disturbances in conduction and impulse formation in patients with familial amyloid polyneuropathy (FAP). Seven patients with FAP required pacemaker treatment during eight years. The most frequent bradyarrhythmias requiring pacing were sinus node dysfunction with junctional failure. Our seven patients had attacks and symptoms of bradyarrhythmias...
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ژورنال
عنوان ژورنال: Amyloid
سال: 2011
ISSN: 1350-6129,1744-2818
DOI: 10.3109/13506129.2010.548424