ReviewBrain : a journal of neurology2015
Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis.
Review in Brain : a journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 60 citations in OpenAlex.
- Rare variation in neurological disease genes and its role in multiple sclerosis mimicry and phenotype.Genome medicine · 2025Article
- Expanding the spectrum of white matter abnormalities in Wolfram syndrome: a retrospective review.Frontiers in neurology · 2025Article
- New views on the complex interplay between degeneration and autoimmunity in multiple sclerosis.Frontiers in cellular neuroscience · 2024Article
- Pearls & Oy-sters:Neurology · 2023Article
- Diagnostic yield and recognized barriers of an adult neurogenetics clinic.Journal of community genetics · 2021Article
- Differential imaging of atypical demyelinating lesions of the central nervous system.La Radiologia medica · 2021Review
- Nuclear prelamin a recognition factor and iron dysregulation in multiple sclerosis.Metabolic brain disease · 2020Article
- Relapsing Demyelinating Syndromes in Children: A Practical Review of Neuroradiological Mimics.Frontiers in neurology · 2020Review
- Bassoon proteinopathy drives neurodegeneration in multiple sclerosis.Nature neuroscience · 2019Article
- Fabry heterozygote mimicking multiple sclerosis.BMJ case reports · 2017Article
- Common genetic etiology between "multiple sclerosis-like" single-gene disorders and familial multiple sclerosis.Human genetics · 2017Article
- Importance of cerebrospinal fluid analysis in the era of McDonald 2010 criteria: a German-Austrian retrospective multicenter study in patients with a clinically isolated syndrome.Journal of neurology · 2016Article
- Multiple sclerosis and chronic progressive external ophthalmoplegia associated with a large scale mitochondrial DNA single deletion.Journal of neurology · 2016Article
- Immunopathology of multiple sclerosis.Nature reviews. Immunology · 2015Review
- A Clinical Approach to the Differential Diagnosis of Multiple Sclerosis.Current neurology and neuroscience reports · 2015Review
- Uncovering genetic mimics in multiple sclerosis: A single-center clinical exome sequencing study.Multiple sclerosis journal - experimental, translational and clinicalArticle
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Several single gene disorders share clinical and radiologic characteristics with multiple sclerosis and have the potential to be overlooked in the differential diagnostic evaluation of both adult and paediatric patients with multiple sclerosis. This group includes lysosomal storage disorders, various mitochondrial diseases, other neurometabolic disorders, and several other miscellaneous disorders. Recognition of a single-gene disorder as causal for a patient's 'multiple sclerosis-like' phenotype is critically important for accurate direction of patient management, and evokes broader genetic counselling implications for affected families. Here we review single gene disorders that have the potential to mimic multiple sclerosis, provide an overview of clinical and investigational characteristics of each disorder, and present guidelines for when clinicians should suspect an underlying heritable disorder that requires diagnostic confirmation in a patient with a definite or probable diagnosis of multiple sclerosis.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.