ArticleInternal medicine (Tokyo, Japan)2018
Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis.
Article in Internal medicine (Tokyo, Japan), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
5 citing papers in PubMed, 10 citations in OpenAlex.
- Exome sequencing reveals broad genetic heterogeneity for neuromuscular disorders in consanguineous Pakistani Families.European journal of human genetics : EJHG · 2025Article
- White matter abnormalities in 15 subjects with SPG76.Journal of neurology · 2023Article
- Movement disorders in hereditary spastic paraplegias.Arquivos de neuro-psiquiatria · 2023Review
- NovelJournal of clinical neurology (Seoul, Korea) · 2021Article
- Description of combined ARHSP/JALS phenotype in some patients with SPG11 mutations.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We describe the cases of two sisters with spastic paraplegia 11 (SPG11). The younger sister developed relapsing lesions in the brain white matter with enhancement during the acute phase that mimicked multiple sclerosis (MS). The elevation of myelin basic protein in the cerebrospinal fluid (CSF) suggested demyelination, but a normal IgG index, the absence of oligoclonal bands, and the ineffectiveness of steroid treatment indicate that an autoimmune mechanism may not have been involved. In these affected sisters, we identified novel compound heterozygous mutations in the SPG11 gene. Our cases indicate the possible existence of a broader phenotypic spectrum of SPG11 mutations.
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