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Neuropathies associated with hereditary disorders

Peter B Kang, MD, FAAP, FAAN
Section Editors
Douglas R Nordli, Jr, MD
Helen V Firth, DM, FRCP, DCH
Deputy Editor
John F Dashe, MD, PhD


The hereditary peripheral neuropathies have been classified based upon clinical characteristics, mode of inheritance, electrophysiologic features, metabolic defects, and, more recently, specific genetic loci. The primary hereditary neuropathies predominantly affect peripheral nerves and produce symptoms of peripheral nerve dysfunction. Other hereditary neuropathies affect both the central and peripheral nervous systems and, in some cases, other organs; in such patients, symptoms related to the peripheral neuropathy may be overshadowed by additional manifestations of the disease (table 1A-D).

The last group of disorders is reviewed here. The primary motor-sensory and sensory–autonomic neuropathies are discussed separately. (See "Charcot-Marie-Tooth disease: Genetics, clinical features, and diagnosis" and "Hereditary sensory and autonomic neuropathies".)


The spinocerebellar ataxias (SCA) are a heterogeneous group of inherited disorders with different neuropathological profiles reflecting the degree of cerebellar and brainstem dysfunction or degeneration. A peripheral neuropathy is described in some but not all (table 1A). Peripheral neuropathy has been best characterized in SCA4, in which a prominent axonal neuropathy is present [1]. A mild peripheral neuropathy with decreased deep tendon reflexes and reduced vibration sense has been described in SCA1 [2], SCA2 [3], SCA3 [4], and SCA6 [5].

A detailed review of the spinocerebellar ataxias is found separately. (See "The spinocerebellar ataxias".)


Infantile neuroaxonal dystrophy (INAD; MIM 256600), also called PLA2G6-associated neurodegeneration or Seitelberger disease, is an autosomal recessive disorder. It is considered one of several subtypes of neurodegeneration with brain iron accumulation (NBIA). (See "Bradykinetic movement disorders in children", section on 'Neurodegeneration with brain iron accumulation'.)

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Literature review current through: Nov 2017. | This topic last updated: Jul 24, 2016.
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