Late-onset familial amyloid polyneuropathy in Japan
2012; Taylor & Francis; Volume: 19; Issue: sup1 Linguagem: Inglês
10.3109/13506129.2012.674580
ISSN1744-2818
Autores Tópico(s)Ion channel regulation and function
ResumoAbstractTransthyretin (TTR) Val30Met-associated familial amyloid polyneuropathy (FAP ATTR Val30Met) is the most common form of FAP. We compared the clinicopathological features and natural history of late-onset FAP ATTR Val30Met cases from non-endemic areas of Japan with early-onset cases from endemic foci. The characteristics of early-onset cases from endemic foci of Japan included the presence of sensory dissociation and marked autonomic dysfunction associated with a predominant loss of small-diameter myelinated and unmyelinated nerve fibers. These characteristics were not common in the late-onset cases from non-endemic areas. The distribution and characteristics of amyloid deposits in late-onset cases were similar to those of senile systemic amyloidosis with wild-type TTR deposition. The causal mechanism of differences between the early- and late-onset forms of FAP with the same mutation in the TTR gene has not yet been determined.Keywords:: Amyloidamyloidosischronic inflammatory demyelinating polyneuropathyfamilial amyloid polyneuropathydiagnosistransthyretin Declaration of Interest: This work was supported by grants from the Ministry of Health, Labor and Welfare of Japan, the Ministry of Education, Culture, Sports, Science and Technology of Japan, and Kimi Imai Memorial Foundation for research of Incurable Neuromuscular Diseases.
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