Showing papers by "Yu-ichi Noto published in 2012"
TL;DR: The findings suggest that serum IL- 12 is a biomarker of the disease activity in POEMS syndrome, and the overproduction of IL-12, as well as VEGF, is likely to play an important role in the pathogenesis of the disorder.
Abstract: Objective: To systematically study abnormalities in cytokine profiles in polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes (POEMS) syndrome, which has been increasingly recognized as a cause of demyelinating neuropathy associated with plasma cell dyscrasia and elevated serum level of vascular endothelial growth factor (VEGF). Methods: In this case-control study, we measured serum levels of 27 cytokines in patients with POEMS syndrome using a multiplex suspension array system, and compared them with those of controls. In 10 patients, serial changes after treatment were analyzed. Results: Interleukin (IL)–12 as well as VEGF levels were markedly increased ( p p > 0.01 and p > 0.05, respectively). Conclusions: Our findings suggest that serum IL-12 is a biomarker of the disease activity in POEMS syndrome. The overproduction of IL-12, as well as VEGF, is likely to play an important role in the pathogenesis of the disorder, and could contribute to the peripheral nerve demyelination in POEMS syndrome.
73 citations
TL;DR: Accepting fasciculation potentials as evidence of acute denervation increases the diagnostic sensitivity of ALS, particularly in patients with bulbar onset, and contributes to early diagnosis.
54 citations
TL;DR: A heterozygous mutation in EGR2, which results in threonine at position 387 being changed to asparagine, is reported on in a family with a mild demyelinating form of adult‐onset CMT, suggesting that the T387N mutation may result in a relatively mild phenotype of demyELinating CMT.
Abstract: Mutations of the early growth response 2 (EGR2) gene have been reported in a variety of severe demyelinating neuropathies such as autosomal recessive congenital hypomyelinating neuropathy, autosomal dominant child-onset Dejerine-Sottas neuropathy, and autosomal dominant adult-onset Charcot-Marie-Tooth disease (CMT). Here, we report on a heterozygous mutation in EGR2 (c.1160C>A), which results in threonine at position 387 being changed to asparagine, in a family with a mild demyelinating form of adult-onset CMT. Of note, both the proband and her asymptomatic son exhibited neither pes cavus nor champagne-bottle leg atrophy, suggesting that the heterozygous T387N mutation may result in a relatively mild phenotype of demyelinating CMT.
9 citations
TL;DR: The findings suggest that membrane potential in human median sensory axons is more negative than in superficial radial axons, possibly due to greater activity of electrogenic Na(+)/K(+) pump.
3 citations
TL;DR: RBD Symptoms in MSA may decrease in association with the aggravation of MSA despite increase in %RWA, however, RBD symptoms in PD patients may not change with the clinical course of PD.
2 citations
TL;DR: The prolonged duration ofSNAPs in group H and the desynchronization of SNAPs in the two patients who underwent follow-up studies suggest the presence of a concomitant demyelinating process in the sensory nerves.
Abstract: Objective A significant number of patients with Fisher syndrome (FS) exhibit sensory symptoms in addition to the classical triad of opthalmoplegia, ataxia and areflexia. Previous studies have shown the amplitudes of sensory nerve action potentials (SNAPs) to decrease in patients with FS, thus implying the presence of an axonal pathology in the sensory nerves. Methods We included ten consecutive patients with FS who were divided into the following two groups: those with hypesthesia (group H) and those without hypesthesia (group NS). The parameters obtained from nerve conduction studies (amplitudes of compound muscle action potentials, motor conduction velocities, amplitudes/duration of SNAPs and sensory conduction velocities) were retrospectively compared between the two groups. In addition, follow-up sensory nerve conduction studies were conducted in one representative patient from each group. Results Of the 10 patients with FS, four (40%) showed hypesthesia and eight (80%) showed distal paresthesia. The amplitudes of the SNAPs of both the median and sural nerves were lower in group H than in group NS. Moreover, the duration of the sural SNAPs was longer in group H than in group NS. Desynchronization of SNAPs in the acute phase was observed during follow-up in both patients who underwent follow-up studies. Conclusion The prolonged duration of SNAPs in group H and the desynchronization of SNAPs in the two patients who underwent follow-up studies suggest the presence of a concomitant demyelinating process in the sensory nerves.