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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Peripheral neuropathy symptoms in wild type transthyretin amyloidosis
Fernanda Wajnsztajn Yungher1,2, Arreum Kim1, Amelia Boehme1
1Department of Neurology, Neurological Institute, Columbia University Irving Medical Center, New York, New York, USA.
Abstract:
To propose a correlation between polyneuropathy and ATTRwt based on retrospective analysis of patients with ATTRwt. We reviewed 151 ATTRwt patients followed by the amyloid cardiac clinic (group A) for symptoms of neuropathy and 12 patients with ATTRwt evaluated in the Neurology Department (group B) with objective measures of neuropathy. Medical history, electrodiagnosis, laboratory and skin biopsies were assessed; 30.5% of group A had neuropathy symptoms. Alternative explanations for neuropathy symptoms were explored, including, age, gender, BMI, diabetes mellitus, B12 deficiency. No difference was observed for BMI, age, gender and spine disease for those with and without neuropathic symptoms (P > .05). All of group B (n = 12) were diagnosed with neuropathy, confirmed by electrodiagnostic testing or skin biopsy, while two patients had not yet developed cardiac symptoms. We observe a higher prevalence of neuropathic symptoms in ATTRwt patients than previously believed. Neuropathic symptoms may precede cardiac symptoms. Our findings suggest a possible causative relationship that requires further investigation.
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Amyloid deposits were observed as early as 1639 in the liver and the spleen. In 1854, Rudolph Virchow performed iodine staining,...
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