Clinical, epidemiological, genetic, and electrophysiological characteristics of transthyretin familial amyloid polyneuropathies in Israel
نویسندگان
چکیده
منابع مشابه
Clinical, epidemiological, genetic, and electrophysiological characteristics of transthyretin familial amyloid polyneuropathies in Israel
Results Seventeen patients were studied. All were Jews. Eleven were of Yemenite descent, harboring the ser77tyr mutation. Of these, seven belonged to a large 3-generation family, and each of the other four to different unrelated families. Three patients were Ashkenazi; one carried the val30met mutation, another the phe33leu mutation, and the third had two mutations on one allele: phe33Ile and g...
متن کاملGenotype–phenotype correlation and course of transthyretin familial amyloid polyneuropathies in France
OBJECTIVE To compare the natural history of familial transthyretin amyloid polyneuropathies (FAP) due to the Val30Met, Ser77Tyr, and Ile107Val mutations in France with the classical Portuguese Val30Met FAP. METHODS We compared 84 French patients with a control group of 110 Portuguese patients carrying the Val30Met mutation also living in France, all referred to and followed at the French Nati...
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...
متن کاملFamilial amyloid polyneuropathy (TTR ala 60) in north west Ireland: a clinical, genetic, and epidemiological study.
A cluster of cases of familial amyloid polyneuropathy has been described in Donegal, north west Ireland. Two patients from this region have been shown to have the ala 60 mutation in the transthyretin gene. Three kindreds with this mutation have also been described in the United States. Genealogical and haplotype studies indicate that all known patients with this mutation are related and are des...
متن کاملTongue atrophy and fasciculations in transthyretin familial amyloid neuropathy
Objective: Macroglossia is a well-known feature of amyloidosis; however, tongue atrophy and fasciculations are rarely seen and can lead to the misdiagnosis of amyotrophic lateral sclerosis (ALS). Methods: We identified 2 unrelated patients with atypical features of tongue atrophy and fasciculations in the setting of a severe neuropathy. Results: Both patients were confirmed to have transthyreti...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2015
ISSN: 1750-1172
DOI: 10.1186/1750-1172-10-s1-o5