Neuropathy

What is Neuropathy? 

Neuropathy is the damage or dysfunction of one or more nerves that results in numbness, tingling, muscle weakness and pain in the affected area. Neuropathies frequently start in the hands and feet and other parts of your body can also be affected. Neuropathy often indicates a problem with the peripheral nervous system. The peripheral nervous system is the network of nerves outside your brain and spinal cord. Neuropathy results when neurons are damaged or destroyed. This disrupts the way the neurons communicate with each other and with the brain. Neuropathy can affect one nerve or nerve type (mononeuropathy), a combination of nerves in a limited area (multifocal neuropathy) or many peripheral nerves throughout the body (polyneuropathy). 

Our Latest Publications on Neuropathy 

Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS): genetic and clinical aspects

Cortese et al, 2022

https://pubmed.ncbi.nlm.nih.gov/34389644/

 An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy

Pagnamenta et al, 2021

https://pubmed.ncbi.nlm.nih.gov/33559681/

Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies

Chen et al, 2021

https://pubmed.ncbi.nlm.nih.gov/33220101/


De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Manole et al, 2020

https://pubmed.ncbi.nlm.nih.gov/32738225/

 

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Efthymiou et al, 2019

https://pubmed.ncbi.nlm.nih.gov/31501903/