The severity and distribution of amyloid deposition in the late-onset familial amyloidotic polyneuropathy (FAP) — a clinicopathological analysis of three autopsy cases

1996 ◽  
Vol 6 ◽  
pp. S47
Author(s):  
Kiyoshi Takahashi ◽  
Naomi Sakashita ◽  
Kazuhisa Miyakawa ◽  
Yukio Ando ◽  
Masayuki Ando
Keyword(s):  
Late Onset ◽  
Amyloid Deposition ◽  
Familial Amyloidotic Polyneuropathy ◽  
Clinicopathological Analysis

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.

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

Charcot Knee Arthropathy with Articular Amyloid Deposition in Familial Amyloidotic Polyneuropathy

1997 ◽  
Vol 26 (1) ◽  
pp. 61-64 ◽  
Author(s):  
M. Shiraishi ◽  
Y. Ando ◽  
H. Mizuta ◽  
E. Nakamura ◽  
K. Takagi ◽  
...  
Keyword(s):  
Amyloid Deposition ◽  
Familial Amyloidotic Polyneuropathy

scholarly journals Genetic variability in response to Aβ deposition influences Alzheimer’s risk

2018 ◽  
Author(s):  
Dervis A. Salih ◽  
Sevinc Bayram ◽  
Manuel S. Guelfi ◽  
Regina Reynolds ◽  
Maryam Shoai ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Genetic Variability ◽  
Disease Risk ◽  
Late Onset ◽  
Association Studies ◽  
Amyloid Deposition ◽  
Genome Wide Association Studies ◽  
Statistical Comparison ◽  
Microglial Response

AbstractGenetic analysis of late-onset Alzheimer’s disease risk has previously identified a network of largely microglial genes that form a transcriptional network. In transgenic mouse models of amyloid deposition we have previously shown that the expression of many of the mouse orthologs of these genes are co-ordinately up-regulated by amyloid deposition. Here we investigate whether systematic analysis of other members of this mouse amyloid-responsive network predicts other Alzheimer’s risk loci. This statistical comparison of the mouse amyloid-response network with Alzheimer’s disease genome-wide association studies identifies 5 other genetic risk loci for the disease (OAS1, CXCL10, LAPTM5, ITGAM and LILRB4). This work suggests that genetic variability in the microglial response to amyloid deposition is a major determinant for Alzheimer’s risk.One Sentence SummaryIdentification of 5 new risk loci for Alzheimer’s by statistical comparison of mouse Aβ microglial response with gene-based SNPs from human GWAS

scholarly journals Asymmetric Amyloid-β Burden and Neurodegeneration in Late-Onset Alzheimer’s Disease Dementia

2021 ◽  
Vol 39 (3) ◽  
pp. 197-201
Author(s):  
Joonho Lee ◽  
Hong Nam Kim ◽  
Min Hye Kim ◽  
In Ja Shin ◽  
Keun Lee ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Late Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Amyloid Β ◽  
Amyloid Deposition ◽  
Positron Emission ◽  
Amyloid Load ◽  
Cortical Regions ◽  
The Right

We report herein a 78-year-old woman with insidiously progressive cognitive impairment and asymmetric amyloid deposition and neurodegeneration. Brain magnetic resonance imaging revealed remarkable atrophy in the right-sided temporal lobe and hippocampus. Early dynamic <sup>18</sup>F-flutemetamol brain amyloid positron-emission tomography images showed decreased uptake in the right temporoparietal regions. Delayed images revealed amyloid deposition which was most remarkable in the right frontotemporoparietal regions. Asymmetries of amyloid burden and neuronal dysfunction are positively correlated in Alzheimer’s disease in cortical regions with high amyloid load.

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