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Article

Novel SPG11 Mutations in a Patient with Symptoms Mimicking Multiple Sclerosis.

Internal medicine (Tokyo, Japan) - 1 Nov 2018

Mukai Masako, Koh Kishin, Ohnuki Yuko, Nagata Eiichiro, Takiyama Yoshihisa, Takizawa Shunya

Abstract excerpt

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...

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Source

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Identifiers

PMID: 29877287
DOI: 10.2169/internalmedicine.0976-18
PMCID: PMC6262711

Genes

SPG11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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