Rapidly progressive amyotrophic lateral sclerosis in a young patient with hereditary neuropathy with liability to pressure palsies

Abstract

We describe the rare case of a young woman with hereditary neuropathy with liability to compression palsy (HNPP), who developed a rapidly progressive ALS. We suggest that underexpression of PMP22 protein in the nervous system might interfere with motor neuron function by impairing myelin formation and exposure of the axon to injury. Patients with ALS and evidence of demyelination should be screened for HNPP.

Key words::

• Hereditary neuropathy with liability to compression palsy (HNPP)
• amyotrophic lateral sclerosis (ALS)
• PMP22 protein

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.