Demyelinating neuropathy as the initial presentation of familial E200K Creutzfeldt-Jakob disease in two patients.

ABSTRACT:

Objective

To describe peripheral neuropathy associated with familial Creutzfeldt-Jakob disease.

Methods

We report two unrelated patients with genetic Creutzfeldt-Jakob disease with demyelinating peripheral neuropathy as initial presentation, with a comprehensive clinical, electrophysiological and neuropathological description.

Results

Both patients exhibited gait disturbance and paresthesia. Electrodiagnostic studies revealed demyelinating abnormalities with motor conduction blocks suggestive of chronic inflammatory demyelinating polyradiculoneuropathy, with abnormal plexus MRI and elevated CSF protein levels. One of them had pes cavus and a late-onset Charcot-Marie-Tooth (CMT) disease was also initially hypothesized. Central nervous system involvement manifested 1-2 

SUBMITTER: Delorme C 

PROVIDER: S-EPMC11920726 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature