کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5633605 1406584 2016 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
International meeting of the French society of neurology 2016Familial amyloid polyneuropathy: When does it stop to be asymptomatic and need a treatment?
ترجمه فارسی عنوان
ملاقات بین المللی جامعه فرانسه مغز و اعصاب 2016 فیبرهای آمیلوئیدی فامیلال: زمانی که آن را متوقف می شود بدون علامت و نیاز به درمان؟
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
چکیده انگلیسی

Transthyretin familial amyloid polyneuropathy (FAP) is a rare disease with autosomal transmission due to point mutation of the transthyretin (TTR) gene. It is the most disabling hereditary neuropathy affecting sensory, motor and autonomic nerves, and is irreversible and fatal within 7 to 12 years of onset in the absence of therapy. Diagnosis is usually delayed for 1-5 years because the onset is usually insidious, and a positive family history is lacking in 50% of late-onset cases. Penetrance is variable, and depends of the age of the carrier and age of onset in family members. Two treatments are available: liver transplantation, to suppress the main source of systemic production of mutant TTR; and TTR tetramer stabilizer drugs, to avoid the release of highly amyloidogenic monomers and oligomers. These therapies are able to stop or slow the progression of the disease in its early stages. Genetic counseling is crucial to detect carriers at risk of developing the disease. The European network for TTR-FAP recommends careful baseline assessment by questionnaire, clinical examination and neurophysiological tests, and periodic consultations to detect the onset of disease in time to start anti-amyloid therapy after biopsy findings of amyloid deposition. A therapeutic educational program is important for improving patients' awareness. Patients are considered symptomatic and ill when they themselves perceive symptoms or changes, including changes from baseline measurements on neurophysiological tests, followed by findings of amyloid deposition on biopsy. The most sensitive biopsies are from the labial salivary gland and skin.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Revue Neurologique - Volume 172, Issue 10, October 2016, Pages 645-652
نویسندگان
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