HNPP and ALS

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Neurol Sci. 2009 Feb 24.

Hereditary neuropathy with liability to pressure palsies and

amyotrophic lateral sclerosis.

Bhatt A, Farooq MU, Aburashed R, Kassab MY, Majid A, Bhatt S,

Naravetla B, Dhaliwal G.

Department of Neurology and Ophthalmology, Michigan State University,

East Lansing, MI, 48823, USA.

A 56-year-old male with recurrent painless focal neuropathies and a

family history of peripheral neuropathy of unknown etiology presented

with progressively worsening of impaired sensations and weakness in

his lower extremities. His initial electrodiagnostic evaluation was

suggestive of severe sensory and motor peripheral polyneuropathy.

The genetic testing was performed for familial causes of peripheral

neuropathy as there was a family history of peripheral neuropathy of

unknown etiology. The patient was found to have 1.5-Mb deletion in

the PMP22 gene which was confirmatory of hereditary neuropathy with

liability to pressure palsies (HNPP).

He developed progressive upper and lower extremity weakness, bulbar

dysfunction and widespread fasciculations during the course of his

illness. He was subsequently diagnosed with amyotrophic lateral

sclerosis (ALS). This is the second reported case of HNPP associated

with ALS. We discuss significant clinical and electrodiagnostic

findings of this interesting case.