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Semin Neurol 2019; 39(05): 620-639
DOI: 10.1055/s-0039-1693006
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Inherited Neuropathies

Antonia S. Carroll
1   Brain and Mind Centre, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
2   Departments of Neurology, Westmead Hospital, University of Sydney, Sydney, New South Wales, Australia
,
Joshua Burns
3   The Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia
,
Garth Nicholson
4   Northcott Neuroscience Laboratory, ANZAC Research Institute, Molecular Medicine Laboratory, Concord Hospital, University of Sydney, Sydney, New South Wales, Australia
,
Matthew C. Kiernan
1   Brain and Mind Centre, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia
5   Department of Neurology, Royal Prince Alfred Hospital, University of Sydney, Sydney, New South Wales, Australia
,
Steve Vucic
2   Departments of Neurology, Westmead Hospital, University of Sydney, Sydney, New South Wales, Australia
› Institutsangaben
Funding This study was supported by research grants from the National Health Medical Research Council of Australia [Project grant numbers 510233, GIA 1726, 1024915, 1055778] and is gratefully acknowledged. This work was also supported by funding to Forefront, a collaborative research group dedicated to the study of frontotemporal dementia and motor neuron disease, from the National Health and Medical research Council of Australia Program Grant (#1037746). A.C. acknowledges the Brain Foundation of Australia for providing postgraduate support.
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Publikationsdatum:
22. Oktober 2019 (online)

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Abstract

The inherited neuropathies are a common and heterogeneous group of slowly progressive disorders affecting motor, sensory, and autonomic nerves. These hereditary conditions can be confined to the peripheral nervous system, termed the primary hereditary neuropathies, or can occur as part of a multisystem disease. Identification of systemic involvement is necessary to distinguish the primary and secondary hereditary neuropathies to prevent the misdiagnosis of potentially treatable entities. Recent genetic and technological advances have dramatically improved our understanding of the underlying pathophysiology of these inherited neuropathies and hence provide the correct milieu for the future development of disease-modifying therapies. This review provides clinical, neurophysiological, genetic, pathophysiological, and treatment insights into the primary inherited neuropathies, and those associated with multisystem diseases, including porphyria and mitochondrial disorders.

Keywords

Charcot–Marie–Tooth disease - distal hereditary motor neuropathy - hereditary neuropathy - hereditary motor and sensory neuropathy - hereditary sensory and autonomic neuropathy