Transthyretin-related familial amyloidotic polyneuropathy: description of a cohort of patients with Leu64 mutation and late onset

2012 ◽  
Vol 17 (4) ◽  
pp. 385-390 ◽  
Author(s):  
Massimo Russo ◽  
Anna Mazzeo ◽  
Claudia Stancanelli ◽  
Rita Di Leo ◽  
Luca Gentile ◽  
...  
Keyword(s):  
Late Onset ◽  
Familial Amyloidotic Polyneuropathy

scholarly journals Late-onset Familial Amyloidotic Polyneuropathy with Bence Jones Proteinuria and Cardiomyopathy

2017 ◽  
Vol 08 (03) ◽  
pp. 448-450
Author(s):  
Sira Carrasco García de León ◽  
Amalia Hernández González ◽  
Carmen Orellana Alonso ◽  
Laura Burriel Lobo
Keyword(s):  
Late Onset ◽  
Abdominal Fat ◽  
Familial Amyloidotic Polyneuropathy ◽  
Light Chains ◽  
Sensorimotor Polyneuropathy ◽  
Cardiac Symptoms ◽  
Hands And Feet ◽  
High Index Of Suspicion ◽  
Genetically Determined ◽  
Difficulty Walking

ABSTRACTFamilial amyloidotic polyneuropathy is a genetically determined disease characterized by deposition of an anomalous transthyretin. A high index of suspicion is needed for this multisymptomatic and lethal disease to be diagnosed. The patient was a 70-year-old male examined due to hypesthesia in the hands and feet, plus difficulty walking. A neurophysiological study delivered the diagnosis of axonal sensorimotor polyneuropathy. He later developed cardiac symptoms and diarrhea. Urine laboratory analyses revealed a monoclonal spike of light chains (kappa). Biopsies of abdominal fat and bone marrow yielded normal results. The genetic study was compatible with a heterozygous Val30Met-transthyretin mutation. Very few case studies have described an association between familial amyloidotic polyneuropathy and monoclonal gammopathy. We stress that genetic confirmation is important regardless of the type of amyloid deposition revealed by the biopsy.

Late onset type I familial amyloidotic polyneuropathy: Presentation of three autopsy cases in comparison with 19 autopsy cases of the ordinary type

1997 ◽  
Vol 47 (6) ◽  
pp. 353-359 ◽  
Author(s):  
Kiyoshi Takahashi ◽  
Naorni Sakashita ◽  
Yukio Ando ◽  
Moritaka Suga ◽  
Masayukl Ando
Keyword(s):  
Late Onset ◽  
Familial Amyloidotic Polyneuropathy ◽  
Type I ◽  
Onset Type ◽  
Ordinary Type

Late-Onset Anaphylaxis to Omalizumab Reported

2006 ◽  
Vol 37 (6) ◽  
pp. 6
Author(s):  
PATRICE WENDLING
Keyword(s):  
Late Onset
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