Adult-Onset Leukodystrophies Mimicking Multiple Sclerosis

Area of Science:

• Neurology
• Genetics
• Radiology

Background:

• Genetic white matter disorders (leukodystrophies) increasingly diagnosed in adults.
• Expanded phenotypes can mimic features of multiple sclerosis (MS).
• Distinguishing leukodystrophies from MS is a diagnostic challenge.

Purpose of the Study:

• Review clinical and radiologic features of adult leukodystrophies.
• Outline methods to differentiate leukodystrophies from MS.
• Highlight the importance of accurate diagnosis for patient outcomes.

Main Methods:

• Review of clinical presentations of adult-onset leukodystrophies.
• Analysis of neuroimaging findings in leukodystrophies versus MS.
• Discussion of diagnostic red flags for differentiating these conditions.

Main Results:

• Adult leukodystrophies can present with multifocal white matter lesions similar to MS.
• Clinical overlap exists, particularly with primary progressive MS.
• Neuroimaging advances aid in distinguishing genetic from acquired white matter disorders.

Conclusions:

• Accurate differentiation of leukodystrophies from MS is critical.
• Misdiagnosis can lead to inappropriate treatments and missed therapies.
• Identifying clinical and radiologic red flags improves diagnostic accuracy.