Familial amyloid polyneuropathy
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 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...
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 کاملVasculopathy in transthyretin Val30Met familial amyloid polyneuropathy
Background Transthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) is the most common form of FAP and has become prevalent in areas other than conventional endemic foci. The clinicopathological features of FAP ATTR Val30Met are known to vary between endemic foci and non-endemic areas in Japan. Characteristic features of early-onset cases from Japanese endemic...
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ژورنال
عنوان ژورنال: Journal of the Neurological Sciences
سال: 2019
ISSN: 0022-510X
DOI: 10.1016/j.jns.2019.10.087