Hereditary peripheral neuropathies

Carried by: FILNEMUS

References:

Clinician(s): Shahram ATTARIAN

Biologist(s): Nathalie BONELLO-PALOT

Presentation

Peripheral neuropathies are secondary to damage to the peripheral nervous system. They are highly heterogeneous:

clinically: age of onset, severity and progression.
genetically, with more than 90 genes reported to be associated with this phenotype.

This multigenic disease is a model for molecular exploration using high-throughput sequencing.

The different subtypes are determined by:

electromyogram (EMG): median NCS (threshold value: 38m/s CMT1 vs CMT2),
the mode of transmission of the disease: autosomal dominant, autosomal recessive, X-linked

Onset of symptoms before the age of 50
History of heredity and/or early onset of the disease (childhood or young adulthood)
Typical clinical presentation with negative panel = ‘phenocopy’:
- search for variants not identified in panel analysis, such as deep intronic variants,
- CNVs,
- balanced rearrangements,
- discovery of new genes, etc.

Clinical presentation considered atypical with identification of new genes associated with new phenotypes.