The evolving spectrum of complex inherited neuropathies.
Curr Opin Neurol
; 37(5): 427-444, 2024 Oct 01.
Article
en En
| MEDLINE
| ID: mdl-39083076
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades del Sistema Nervioso Periférico
Límite:
Humans
Idioma:
En
Revista:
Curr Opin Neurol
Asunto de la revista:
NEUROLOGIA
Año:
2024
Tipo del documento:
Article
Pais de publicación:
Reino Unido