Journal Article

DZNE-2021-00133

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.

Zimmermann, M. (First author)DZNE* ; Deininger, N. ; Willikens, S. ; Haack, T. B. ; Grundmann-Hauser, K. ; Streubel, B. ; Schreiber, M.DZNE* ; Lerche, H.DZNE* ; Grimm, A. (Last author)DZNE*

2021
Springer Milano

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Please use a persistent id in citations: doi:10.1007/s10072-020-04896-3

Abstract: Hereditary transthyretin amyloidosis with polyneuropathy (hATTRPN) is an autosomal dominant multi-organ disorder manifesting in the third to fifth decade with the key clinical features of distal and painful sensory loss of the lower limbs and autonomic dysregulation. Motor neuropathy and cardiomyopathy evolve in the course of the disease. Pompe disease is an autosomal recessive disease leading to decreased levels of lysosomal enzyme acid α-glucosidase and proximal muscle weakness. We report the clinical features and diagnostic workup in the rare case of a patient with ATTR amyloidosis and late-onset Pompe disease, both genetically confirmed.We performed a detailed clinical assessment, exome sequencing, and biochemical measurements.The patient presented with a distal, painful hypaesthesia of both legs, a cardiomyopathy, and a muscle weakness in the form of a girdle-type pattern of the arms and legs at the beginning and a spreading to distal muscle groups in the course of disease.This study highlights the importance of searching for co-occurrence of rare monogenetic neuromuscular diseases, especially in cases in which all clinical features can be readily explained by a single gene defect.

Keyword(s): Aged (MeSH) ; Aged, 80 and over (MeSH) ; Amyloid Neuropathies, Familial: complications (MeSH) ; Amyloid Neuropathies, Familial: genetics (MeSH) ; Cardiomyopathies (MeSH) ; Glycogen Storage Disease Type II: complications (MeSH) ; Glycogen Storage Disease Type II: genetics (MeSH) ; Humans (MeSH) ; Male (MeSH) ; Middle Aged (MeSH) ; Polyneuropathies (MeSH) ; Prealbumin (MeSH) ; Amyloidosis ; Axonal degeneration ; Polyneuropathy ; Pompe disease ; Transthyretin

Note: ISSN 1590-3478 not unique: **3 hits**.

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Contributing Institute(s):

1. Tübingen common (Tübingen common)

Research Program(s):

1. 352 - Disease Mechanisms (POF4-352) (POF4-352)

Appears in the scientific report 2021

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Database coverage:
; ; ; BIOSIS Previews ; Biological Abstracts ; Clarivate Analytics Master Journal List ; Current Contents - Clinical Medicine ; DEAL Springer ; Ebsco Academic Search ; Essential Science Indicators ; IF < 5 ; JCR ; Nationallizenz ; SCOPUS ; Science Citation Index Expanded ; Web of Science Core Collection

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