Understanding the Complex Diagnosis of Genetic Leukodystrophies: Alise Carlson, MD


Alise Carlson, MD, a resident at Cleveland Clinic, detailed the reasons for her study evaluating genetic leukodystrophies and their differences to multiple sclerosis at diagnosis.

"As one might imagine, the criteria can be fulfilled by many other neurologic diseases. Genetic leukodystrophies have been long recognized as part of this differential, but due to the relative infrequency with which neurologists encounter these patients in clinical practice, they can be very diagnostically challenging.”

At the America’s Committee for Treatment and Research in MS (ACTRIMS) Forum 2021, February 25-27, Alise Carlson, MD, presented a study that described the clinical and imaging features of patients with genetic leukodystrophies (gLDs) initially misdiagnosed with multiple sclerosis (MS). Adult-onset gLDs are rare, oftentimes difficult to diagnose, and can be overlooked in the diagnosis evaluation of potential MS mimics.

Carlson’s data revealed a number of different gLD diagnoses, all of which were confirmed by single-gene analysis, gene panel, or whole genome sequencing. Among the cohort of 19 patients, primary progressive MS was suspected in 13 (68%) and relapsing-remitting MS in 4 (21%).

To better understand the origins of the study, as well as the major differences between gLDs and MS at diagnosis, NeurologyLive sat down with Carlson. She stressed that the clinical history and diagnostic evaluation can be helpful in keying providers into thinking about potentially MS mimics.

Carlson A, Nadjar Y, Cohen JA, Macaron G. Adult-onset genetic leukodystrophies misdiagnosed as multiple sclerosis in clinical practice. Presented at ACTRIMS Forum 2021; February 25–27. Session S1.4
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