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Finsterer, J; Wanschitz, J; Quasthoff, S; Iglseder, S; Löscher, W; Grisold, W.
Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease.
Acta Neurol Scand. 2017; 136(6):558-569
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Authors Med Uni Graz:
Quasthoff Stefan
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Abstract:
Most acquired neuropathies are treatable, whereas genetic neuropathies respond to treatment in Fabry's disease (FD), transthyretin-related familial amyloidosis (TTR-FA), and Pompe's disease (PD). This review summarizes and discusses recent findings and future perspectives concerning etiology, pathophysiology, clinical presentation, diagnosis, treatment, and outcome of neuropathy in FD, TTR-FA, and PD. Literature review. Neuropathy in FD concerns particularly small, unmyelinated, or myelinated sensory fibers (small fiber neuropathy [SFN]) and autonomic fibers, manifesting as acroparesthesias, Fabry's crises, or autonomous disturbances. FD neuropathy benefits from agalsidase alpha (0.2 mg/kg every second week intravenously) or from beta (1.0 mg/kg every second week intravenously). Neuropathy in TTR-FA is axonal and affects large and small sensory, motor, and autonomous fibers. Neuropathy in TTR-FA profits from liver transplantation and the TTR kinetic stabilizer tafamidis (20 mg/d). Neuropathy in PD particularly occurs in late-onset PD and manifests as mononeuropathy, polyneuropathy, or SFN. PD neuropathy presumably responds to alglucosidase-alpha (20 mg/kg every second week intravenously). Neuropathy in FD, TTR-FA, and PD is predominantly a SFN and can be the dominant feature in FD and TTR-FA. SFN in FD, TTR-FA, and PD needs to be recognized and benefits from enzyme replacement treatment or TT-kinetic stabilizers. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Find related publications in this database (using NLM MeSH Indexing)
Amyloid Neuropathies, Familial - complications
Fabry Disease - complications
Female -
Glycogen Storage Disease Type II - complications
Humans -
Male -
Nervous System Diseases - diagnosis
Nervous System Diseases - etiology
Nervous System Diseases - therapy

Find related publications in this database (Keywords)
enzyme replacement therapy
Fabry's disease
metabolic defect
nerve conduction
neuropathy
Pompe's disease
transthyretin-related familial amyloidosis
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