TY  - JOUR
AU  - Zimmermann, Milan
AU  - Deininger, Natalie
AU  - Willikens, Sophia
AU  - Haack, Tobias B
AU  - Grundmann-Hauser, Kathrin
AU  - Streubel, Berthold
AU  - Schreiber, Melanie
AU  - Lerche, Holger
AU  - Grimm, Alexander
TI  - Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis.
JO  - Neurological sciences
VL  - 42
IS  - 4
SN  - 1590-3478
CY  - Milano
PB  - Springer
M1  - DZNE-2021-00133
SP  - 1523 - 1525
PY  - 2021
N1  - ISSN 1590-3478 not unique: **3 hits**.
AB  - 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.
KW  - Aged
KW  - Aged, 80 and over
KW  - Amyloid Neuropathies, Familial: complications
KW  - Amyloid Neuropathies, Familial: genetics
KW  - Cardiomyopathies
KW  - Glycogen Storage Disease Type II: complications
KW  - Glycogen Storage Disease Type II: genetics
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Polyneuropathies
KW  - Prealbumin
KW  - Amyloidosis (Other)
KW  - Axonal degeneration (Other)
KW  - Polyneuropathy (Other)
KW  - Pompe disease (Other)
KW  - Transthyretin (Other)
LB  - PUB:(DE-HGF)16
C6  - pmid:33188503
C2  - pmc:PMC7955998
DO  - DOI:10.1007/s10072-020-04896-3
UR  - https://pub.dzne.de/record/154279
ER  -