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. 2019 Nov 4;11(6):257–268. doi: 10.3892/br.2019.1250

Table VI.

Characteristics of patients with RRMS with missense mutations in the ND4 gene.

Characteristics Patient no. 44 Patient no. 48
Sex Female Female
Age (years) 31 25
Disease duration (years since diagnosis) 6 4
Number of relapses per year 1 1
Main neurological dysfunction Blurry vision, pain on ocular movement, sensory ataxia, weakness, numbness, imbalance Imbalance, incoordination of movement, weakness on lower limbs, numbness, imbalance
EDSS 3.7 2.4
MRI and LP findings Mainly paraventricular and cervical hyperintensity representing demyelination lesions Mainly paraventricular and cervical hyperintensity representing demyelination lesions
Previous medication Rebif Avonex
Current medication Gilenya Avonex

RRMS, relapse-remitting multiple sclerosis; EDSS, expanded disability status scale; MRI, magnetic resonance imaging; LP, lumbar puncture.