title: Causally treatable, hereditary neuropathies in Fabry's disease, transthyretin-related familial amyloidosis, and Pompe's disease.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Literature review.
  
  
  RESULTS
  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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Krankenanstalt Rudolfstiftung, Vienna, Austria.
authors.forename: J
authors.identifier: http://orcid.org/0000-0003-2839-7305
authors.initials: J
authors.lastname: Finsterer
authors.affiliation: Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: J
authors.initials: J
authors.lastname: Wanschitz
authors.affiliation: Department of Neurology, Medical University Graz, Graz, Austria.
authors.forename: S
authors.initials: S
authors.lastname: Quasthoff
authors.affiliation: Neurological Department, KH Barmherzige Brüder, Linz, Austria.
authors.forename: S
authors.initials: S
authors.lastname: Iglseder
authors.affiliation: Department of Neurology, Medical University Innsbruck, Innsbruck, Austria.
authors.forename: W
authors.initials: W
authors.lastname: Löscher
authors.affiliation: Neurological Department, Kaiser-Franz Josef Spital, Vienna, Austria.
authors.forename: W
authors.initials: W
authors.lastname: Grisold
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000150:complications*; D000795:Fabry Disease / Q000150:complications*; D005260:Female; D006009:Glycogen Storage Disease Type II / Q000150:complications*; D006801:Humans; D008297:Male; D009422:Nervous System Diseases / Q000175:diagnosis / Q000209:etiology / Q000628:therapy
keywords: Fabry's disease; Pompe's disease; enzyme replacement therapy; metabolic defect; nerve conduction; neuropathy; transthyretin-related familial amyloidosis