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Review
. 2024 Oct 1;37(5):427-444.
doi: 10.1097/WCO.0000000000001307. Epub 2024 Jul 31.

The evolving spectrum of complex inherited neuropathies

Alexander M Rossor  1   2 , Saif Haddad  1 , Mary M Reilly  1
Affiliations
Review

The evolving spectrum of complex inherited neuropathies

Alexander M Rossor et al. Curr Opin Neurol. .

Abstract

Purpose of review: Inherited peripheral neuropathies can be divided into those diseases in which peripheral neuropathy is the sole or main feature of the disease (Charcot-Marie-Tooth disease) and those in which peripheral neuropathy is just one feature of a more complex syndrome. In recent years there has been a substantial expansion in the number of genes associated with complex neuropathy syndromes.

Recent findings: This review will focus on emerging themes in this group of diseases, namely the increasing number of diseases due to repeat expansions; the emergence of both recessive and dominant negative alleles in the same gene producing a common phenotype and diseases in which there is selective loss of the allele from haematopoietic stem cells making genetic diagnosis on blood derived DNA problematic.

Summary: In this review we provide a practical approach to investigating and diagnosing patients with peripheral neuropathy as part of a complex syndrome and provide an updated table of the genes associated with this group of diseases.

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Conflict of interest statement

A.M.R. has received honoraria from Anylam and AstraZeneca pharmaceuticals.

Figures

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FIGURE 1
FIGURE 1
A diagnostic approach for patients with complex inherited neuropathy syndromes.
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References

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