Brownlee, W;
Hardy, TA;
Fazekas, F;
Miller, DH;
(2017)
Diagnosis of multiple sclerosis: progress and challenges.
The Lancet
, 389
(10076)
pp. 1336-1346.
10.1016/S0140-6736(16)30959-X.
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Abstract
The diagnosis of multiple sclerosis (MS) is based on typical neurological symptoms and signs along with evidence of dissemination of central nervous system (CNS) lesions in space and time. Magnetic resonance imaging (MRI) is often sufficient to confirm the diagnosis when characteristic lesions of MS accompany a typical clinical syndrome, but in some patients, further supportive information can be obtained from cerebrospinal fluid examination and neurophysiological testing. It is important to differentiate MS not only from other diseases in which demyelination is a feature e.g. neuromyelitis spectrum disorder (NMOSD) and acute disseminated encephalomyelitis (ADEM), but also non-demyelinating conditions such as chronic small vessel disease and other inflammatory, granulomatous, infective, metabolic and genetic causes that can mimic MS. Advances in MRI, serological and genetic tests have greatly helped in distinguishing MS from these conditions, but misdiagnosis can occur. In this review, we explore the progress and challenges in the diagnosis of MS with reference to diagnostic criteria, important differential diagnoses, current controversies and uncertainties, and future prospects.
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