title: Towards a functional pathology of hereditary neuropathies.
abstract: A growing number of hereditary neuropathies have been assigned to causative gene defects in recent years. The study of human nerve biopsy samples has contributed substantially to the discovery of many of these neuropathy genes. Genotype-phenotype correlations based on peripheral nerve pathology have provided a comprehensive picture of the consequences of these mutations. Intriguingly, several gene defects lead to distinguishable lesion patterns that can be studied in nerve biopsies. These characteristic features include the loss of certain nerve fiber populations and a large spectrum of distinct structural changes of axons, Schwann cells and other components of peripheral nerves. In several instances the lesion patterns are directly or indirectly linked to the known functions of the mutated gene. The present review is designed to provide an overview on these characteristic patterns. It also considers other aspects important for the manifestation and pathology of hereditary neuropathies including the role of inflammation, effects of chemotherapeutic agents and alterations detectable in skin biopsies.
authors.affiliation: Institute of Neuropathology, RWTH Aachen University Medical School, Pauwelsstr. 30, 52074, Aachen, Germany. jweis@ukaachen.de.
authors.forename: Joachim
authors.identifier: 0000-0003-3280-6773
authors.initials: J
authors.lastname: Weis
authors.affiliation: Institute of Neuropathology, RWTH Aachen University Medical School, Pauwelsstr. 30, 52074, Aachen, Germany.|Department of Neurology, RWTH Aachen University Medical School, Pauwelsstr. 30, 52074, Aachen, Germany.|Department of Neurology, University Hospitals Leuven and University of Leuven (KU Leuven), Leuven, Belgium.
authors.forename: Kristl G
authors.initials: KG
authors.lastname: Claeys
authors.affiliation: Institute of Neuropathology, RWTH Aachen University Medical School, Pauwelsstr. 30, 52074, Aachen, Germany.|Leibniz-Institut für Analytische Wissenschaften-ISAS-e.V., Otto-Hahn-Str. 6b, 44227, Dortmund, Germany.
authors.forename: Andreas
authors.initials: A
authors.lastname: Roos
authors.affiliation: Institute of Neuropathology, RWTH Aachen University Medical School, Pauwelsstr. 30, 52074, Aachen, Germany.
authors.forename: Hamid
authors.initials: H
authors.lastname: Azzedine
authors.affiliation: Institute of Neuropathology, RWTH Aachen University Medical School, Pauwelsstr. 30, 52074, Aachen, Germany.
authors.forename: Istvan
authors.initials: I
authors.lastname: Katona
authors.affiliation: Institute of Neuropathology, RWTH Aachen University Medical School, Pauwelsstr. 30, 52074, Aachen, Germany.
authors.forename: J Michael
authors.initials: JM
authors.lastname: Schröder
authors.affiliation: Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Ziemssenstr. 1a, 80336, Munich, Germany. Jan.Senderek@med.uni-muenchen.de.
authors.forename: Jan
authors.initials: J
authors.lastname: Senderek
mesh_terms: D000818:Animals; D015417:Hereditary Sensory and Motor Neuropathy / Q000188:drug therapy / Q000235:genetics / Q000473:pathology* / Q000503:physiopathology*; D006801:Humans
keywords: Charcot–Marie–Tooth disease (CMT); Chemotherapy; Hereditary motor neuropathy (HMN); Hereditary sensory and autonomic neuropathy (HSAN); Hereditary sensory and motor neuropathy (HMSN); Inflammatory neuropathy