Genetic diseases mimicking multiple sclerosis

ABSTRACT

Multiple sclerosis (MS) is an inflammatory neurodegenerative disorder manifesting as gradual or progressive loss of neurological functions. Most patients present with relapsing-remitting disease courses. Extensive research over recent decades has expounded our insights into the presentations and diagnostic features of MS. Groups of genetic diseases, CADASIL and leukodystrophies, for example, have been frequently misdiagnosed with MS due to some overlapping clinical and radiological features. The delayed identification of these diseases in late adulthood can lead to severe neurological complications. Herein we discuss genetic diseases that have the potential to mimic multiple sclerosis, with highlights on clinical identification and practicing pearls that may aid physicians in recognizing MS-mimics with genetic background in clinical settings.

KEYWORDS:

• Genetic diseases
• multiple sclerosis
• neurodegenerative disorders
• multiple sclerosis- mimics
• leukodystrophies
• mitochondrial dysfunctions

Acknowledgments

We thank Professor Yi-Chung Lee (Department of Neurology, Taipei Veterans General Hospital, Taiwan) for providing brain MRI of CADASIL patient; we thank Professor Chiung- Mei Chen (Department of Neurology, Chang-Gung Memorial Hospital, Taiwan) for providing brain MRI of adult X-ALD patient.

Declaration of financial/other relationships

The author(s) have no relevant financial/other relationships to declare. Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

The authors have no relevant funding to declare.