2024 American Academy of Neurology Abstract Website

Objective:

To determine prevalence/characteristics of adult patients with both white matter disorders and peripheral neuropathies.

Background:

Although rare, white matter disorders (WMD) and peripheral neuropathy may overlap in some adults due to both inherited and acquired causes. Inherited etiologies include adult-onset leukodystrophies or leukoencephalopathies. Acquired etiologies include multiple sclerosis (MS) and chronic inflammatory demyelinating polyneuropathy. It is not yet known how often this occurs nor how to differentiate acquired versus inherited causes.

Design/Methods:

This single-center retrospective study utilized the electronic medical record to identify patients between 1/2016 and 6/2023 with EMG-confirmed peripheral neuropathy and specific ICD-10 codes to support a diagnosis of WMD. Charts were reviewed to confirm brain MRI and EMG findings, and extract patient-specific variables.

Results:

Seventy-eight patients met inclusion criteria with 53.8% male and 46.2% female. Mean age at symptom onset was 58.9 years. The most common CNS white matter diagnosis was “nonspecific white matter changes” (83.3%) followed by MS (10.2%). The most common peripheral neuropathy diagnosis was Guillain-Barré syndrome (GBS, 21.8%) followed by diabetic polyneuropathy (19.2%). Most patients reported first symptom localized to the PNS (67.9%); numbness/paresthesias were the most common (30.8%). Most patients were first evaluated by general outpatient neurology (37.2%). Genetic testing was recommended for 12 (15.4%), 7 patients completed testing, with 1 confirmed genetic PNS diagnosis (VEXAS).

Conclusions:

Most patients were not referred for genetic testing. There was a high incidence of acute neuropathies and first symptom localizing to the PNS, likely due to requirement for EMG-confirmed neuropathy. Most brain MRI reports noted non-specific white matter lesions. We will next evaluate white matter lesion patterns on brain MRI and compare to a previously identified adult-onset genetic leukodystrophy cohort with coincident neuropathy. We expect to elucidate differences in acquired versus acute presentation of WMD and peripheral neuropathies, which may aid in future workup and referral practices to neurogenetics clinics.