Ways to Lower Genetic Leukodystrophies Misdiagnosis in Clinical Settings: Alise Carlson, MD

Alise Carlson, MD, a resident at Cleveland Clinic, provided insight on how raising awareness for genetic leukodystrophies may ultimately improve misdiagnosis rates.

"In the meantime, we need to again, emphasize the importance of taking a detailed clinical history, including a family history, asking about the co-occurrence of atypical symptoms which might key us into these conditions.”

Misdiagnosis of multiple sclerosis (MS) remains relatively common and can sometimes be confused for other potential MS mimics such as adult-onset genetic leukodystrophies (gLD). An abstract presented at America’s Committee for Treatment and Research in MS (ACTRIMS) Forum 2021, February 25-27, concluded that adult-onset gLDs should be part of the differential diagnosis of MS and suspected patients with progressive neurological symptoms, negative oligoclonal bands, and atypical white matter abnormalities.

Presented and lead by Alise Carlson, MD, resident, Cleveland Clinic, the research describes the clinical and imaging features of patients with gLD initially misdiagnosed with MS. Genetic testing, particularly whole exome sequencing, is something that Carlson claims needs to be more standardized to help lower the rates of misdiagnosis.

In an interview with NeurologyLive, Carlson shares her keys to success in identifying and correctly diagnosing patients with MS from their mimics. She also touched upon the role genetics can play and how awareness can be more widely raised throughout the clinical care setting.