The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Annu Rev Pathol
; 16: 487-509, 2021 01 24.
Article
in En
| MEDLINE
| ID: mdl-33497257
ABSTRACT
Hereditary peripheral neuropathy (HPN) is a complex group of neurological disorders caused by mutations in genes expressed by neurons and Schwann cells. The inheritance of a single mutation or multiple mutations in several genes leads to disease phenotype. Patients exhibit symptoms during development, at an early age or later in adulthood. Most of the mechanistic understanding about these neuropathies comes from animal models and histopathological analyses of postmortem human tissues. Diagnosis is often very complex due to the heterogeneity and overlap in symptoms and the frequent overlap between various genes and different mutations they possess. Some symptoms in HPN are common through different subtypes such as axonal degeneration, demyelination, and loss of motor and sensory neurons, leading to similar physiologic abnormalities. Recent advances in gene-targeted therapies, genetic engineering, and next-generation sequencing have augmented our understanding of the underlying pathogenetic mechanisms of HPN.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hereditary Sensory and Motor Neuropathy
Type of study:
Diagnostic_studies
/
Prognostic_studies
Limits:
Adult
/
Animals
/
Humans
Language:
En
Journal:
Annu Rev Pathol
Journal subject:
PATOLOGIA
Year:
2021
Document type:
Article