Onion Bulb Formation Research Articles

Genetic Analyses of the Shape and Volume of Onion Bulbs and Daylength Effects on Bulbing

The formation of onion (Allium cepa) bulbs is affected by photoperiod length and onion germplasm is commonly classified as short- (SD), intermediate-, or long-day (LD) types. The objectives of this study were to develop a segregating family from a cross between doubled haploids (DHs) of LD and SD onions and complete genetic analyses of bulb shape and volume, as well as daylength effects on bulbing. DH parents and F1 and F2 progenies were grown in a greenhouse under lengthening days. The diameters of the neck constriction and pseudostems were measured weekly and their ratio was used as the determinant of bulbing. Bulbs were harvested when the foliage collapsed and the diameters and heights of individual bulbs were measured and used to calculate a shape index (diameter divided by height) and bulb volume. Single nucleotide polymorphisms (SNPs) were genotyped and a genetic map of 112 SNPs constructed. Genetic analysis revealed two highly significant quantitative trait loci (QTL) affected bulbing under increasing daylengths, and both QTL showed significant additive effects with no dominance. One highly significant QTL was detected for bulb-shape index and explained 30% of phenotypic variation for bulb shape. Three additional QTL were slightly above the significance threshold, and together these four QTL explained over 50% of the phenotypic variation for bulb shape. No significant QTL were detected for bulb volume. These results reveal that bulb-shape and daylength effects on bulbing are relatively simply inherited, and this research should facilitate introgression of traits between onion populations of different daylength sensitivities and efforts to modify bulb shape.

Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.

Myelin protein zero (MPZ/P0) is a major structural protein of peripheral nerve myelin. Disease-associated variants in the MPZ gene cause a wide phenotypic spectrum of inherited peripheral neuropathies. Previous nerve biopsy studies showed evidence for subtype-specific morphological features. Here, we aimed at enhancing the understanding of these subtype-specific features and pathophysiological aspects of MPZ neuropathies. We examined archival material from two Central European centers and systematically determined genetic, clinical, and neuropathological features of 21 patients with MPZ mutations compared to 16 controls. Cases were grouped based on nerve conduction data into congenital hypomyelinating neuropathy (CHN; n = 2), demyelinating Charcot-Marie-Tooth (CMT type 1; n = 11), intermediate (CMTi; n = 3), and axonal CMT (type 2; n = 5). Six cases had combined muscle and nerve biopsies and one underwent autopsy. We detected four MPZ gene variants not previously described in patients with neuropathy. Light and electron microscopy of nerve biopsies confirmed fewer myelinated fibers, more onion bulbs and reduced regeneration in demyelinating CMT1 compared to CMT2/CMTi. In addition, we observed significantly more denervated Schwann cells, more collagen pockets, fewer unmyelinated axons per Schwann cell unit and a higher density of Schwann cell nuclei in CMT1 compared to CMT2/CMTi. CHN was characterized by basal lamina onion bulb formation, a further increase in Schwann cell density and hypomyelination. Most late onset axonal neuropathy patients showed microangiopathy. In the autopsy case, we observed prominent neuromatous hyperinnervation of the spinal meninges. In four of the six muscle biopsies, we found marked structural mitochondrial abnormalities. These results show that MPZ alterations not only affect myelinated nerve fibers, leading to either primarily demyelinating or axonal changes, but also affect non-myelinated nerve fibers. The autopsy case offers insight into spinal nerve root pathology in MPZ neuropathy. Finally, our data suggest a peculiar association of MPZ mutations with mitochondrial alterations in muscle.

Clinicopathological features in two families with MARS-related Charcot-Marie-Tooth disease.

Mutations in MARS gene cause dominant Charcot-Marie-Tooth disease (CMT) 2U. The aim of this study is to investigate phenotypic heterogeneities and peripheral neuropathology of MARS-related CMT patients. We identified a heterozygous p. R199Q mutation and an already reported heterozygous p. P800T mutation of MARS gene in two unrelated families using targeted next-generation sequencing. The first pedigree comprised three patients over three generations and the second pedigree comprised two patients over two generations. In addition of an asymptomatic carrier in the second pedigree, all patients presented with childhood-onset length dependent sensorimotor neuropathy with pes cavus. Nerve conduction studies revealed slowing of motor nerve conduction velocities (MNCV) of the median nerve indicating intermediate neuropathy in the patient with the p. R199Q mutation, and normal MNCV with reduced compound muscle action potential indicating axonal neuropathy in the patient with the p. P800T mutation. Magnetic resonance imaging detected a pattern of nerve changes similar to those in demyelinating polyneuropathies in intermediate type (p. R199Q mutation) patients compared with normal in the axonal type (p. P800T mutation) patients. Additionally, sural nerve biopsy revealed loss of myelinated axons with onion bulb formation in both mutations. By electron microscopy, a marked decrease of myelinated and unmyelinated fiber, neurofilaments aggregate with degenerating mitochondria and microtubule loss in axons were frequently found. Denervated Schwann cell complexes and few collagen pockets indicated involvement of unmyelinated Schwann cells. Therefore, the investigated MARS mutations cause not only the known axonal type but also intermediate type neuropathy with involvement of both axons and Schwann cells. Those findings are useful for the differential diagnosis of CMT patients with unknown MARS variants.

Pathology of the peripheral neuropathy Charcot-Marie-Tooth disease type 4H in Holstein Friesian cattle with a splice site mutation in FGD4.

Charcot-Marie-Tooth disease (CMT) is a hereditary sensory and motor peripheral neuropathy that is one of the most common inherited neurological diseases of humans and may be caused by mutations in a number of different genes. The subtype Charcot-Marie-Tooth disease type 4H (CMT4H) is caused by homozygous mutations in the FGD4 (FYVE, RhoGEF, and PH domain-containing 4) gene. A previous genome-wide association study involving 130,783 dairy cows found 6 novel variants, one of which was a homozygous splice site mutation in the FGD4 gene. Descendants of carriers were genotyped to identify 9 homozygous Holstein Friesian calves that were raised to maturity, of which 5 were euthanized and sampled for histopathology and electron microscopy at 2 and 2.5 years of age. Three control Holstein Friesian animals were raised with the calves and euthanized at the same time points. No macroscopic lesions consistent with CMT4H were seen at necropsy. Microscopically, peripheral nerves were hypercellular due to hyperplasia of S100-positive Schwann cells, and there was onion bulb formation, axonal degeneration with demyelination, and increased thickness of the endoneurium. On electron microscopy, decreased axonal density, onion bulb formations, myelin outfoldings, and increased numbers of mitochondria were present. These changes are consistent with those described in mouse models and humans with CMT4H, making these cattle a potential large animal model for CMT.

Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report

BackgroundCharcot-Marie-Tooth disease (CMT) is a genetically heterogeneous hereditary neuropathy, and CMT1A is the most common form; it is caused by a duplication of the peripheral myelin protein 22 (PMP22) gene. Mutations in the transient sodium channel Nav1.4 alpha subunit (SCN4A) gene underlie a diverse group of dominantly inherited nondystrophic myotonias that run the spectrum from subclinical myopathy to severe muscle stiffness, disabling weakness, or frank episodes of paralysis.Case presentationWe describe a Chinese family affected by both CMT1A and myotonia with concomitant alterations in both the PMP22 and SCN4A genes. In this family, the affected proband inherited the disease from his father in an autosomal dominant manner. Genetic analysis confirmed duplication of the PMP22 gene and a missense c.3917G > C (p. Gly1306Ala) mutation in SCN4A in both the proband and his father. The clinical phenotype in the proband showed the combined involvement of skeletal muscle and peripheral nerves. Electromyography showed myopathic changes, including myotonic discharges. MRI revealed the concurrence of neurogenic and myogenic changes in the lower leg muscles. Sural nerve biopsies revealed a chronic demyelinating and remyelinating process with onion bulb formations in the proband. The proband’s father presented with confirmed subclinical myopathy, very mild distal atrophy and proximal hypertrophy of the lower leg muscles, pes cavus, and areflexia.ConclusionThis study reports the coexistence of PMP22 duplication and SCN4A mutation. The presenting features in this family suggested that both neuropathy and myopathy were inherited in an autosomal dominant manner. The proband had a typical phenotype of sodium channel myotonia (SCM) and CMT1A. However, his father with the same mutations presented a much milder clinical phenotype. Our study might expand the genetic and phenotypic spectra of neuromuscular disorders with concomitant mutations.

Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.

Variants in SURF1, encoding an assembly factor of mitochondrial respiratory chain complex IV, cause Leigh syndrome (LS) and Charcot-Marie-Tooth type 4K in children and young adolescents. Magnetic resonance imaging (MRI) appearance of enlarged nerve roots with postcontrastographic enhancement is a distinctive feature of hypertrophic neuropathy caused by onion-bulb formation and it has rarely been described in mitochondrial diseases (MDs). Spinal nerve roots abnormalities on MRI are novel findings in LS associated with variants in SURF1. Here we report detailed neuroradiological and neurophysiologic findings in a child with LS and demyelinating neuropathy SURF1-related. Our case underlines the potential contributive role of spinal neuroimaging together with neurophysiological examination to identify the full spectrum of patterns in MDs. It remains to elucidate if these observations remain peculiar of SURF1 variants or potentially detectable in other MDs with peripheral nervous system involvement.

Long-term Follow-up and Histological Correlation of Peripheral Nervous System Alterations in Neurofibromatosis Type\xa02

PurposeTo examine long-term alterations of the dorsal root ganglia (DRG) and the peripheral nerve in patients with neurofibromatosis type 2 (NF2) by in vivo high-resolution magnetic resonance neurography (MRN) and their correlation to histology.MethodsIn this prospective study the lumbosacral DRG, the right sciatic, tibial, and peroneal nerves were examined in 6 patients diagnosed with NF2 and associated polyneuropathy (PNP) by a standardized MRN protocol at 3 T. Volumes of DRG L3–S2 as well as peripheral nerve lesions were assessed and compared to follow-up examinations after 14–100 months. In one patient, imaging findings were further correlated to histology.ResultsFollow-up MRN examination showed a non-significant increase of volume for the DRG L3: +0.41% (p = 0.10), L4: +22.41% (p = 0.23), L5: +3.38% (p = 0.09), S1: +10.63% (p = 0.05) and S2: +1.17% (p = 0.57). Likewise, peripheral nerve lesions were not significantly increased regarding size (2.18 mm2 vs. 2.15 mm2, p = 0.89) and number (9.00 vs. 9.33, p = 0.36). Histological analyses identified schwannomas as the major correlate of both DRG hyperplasia and peripheral nerve lesions. For peripheral nerve microlesions additionally clusters of onion-bulb formations were identified.ConclusionPeripheral nervous system alterations seem to be constant or show only a minor increase in adult NF2. Thus, symptoms of PNP may not primarily attributed to the initial schwannoma growth but to secondary long-term processes, with symptoms only occurring if a certain threshold is exceeded. Histology identified grouped areas of Schwann cell proliferations as the correlate of DRG hyperplasia, while for peripheral nerve lesions different patterns could be found.

Clinical and Neuroimaging Features in Charcot-Marie-Tooth Patients with GNB4 Mutations.

Charcot–Marie–Tooth disease (CMT) is the most common inherited peripheral neuropathy. Mutations in the GNB4 gene cause dominant intermediate CMT type F (CMTDIF). The aim of this study is to investigate phenotypic heterogeneities and characteristics of CMT patients with GNB4 mutations. We enrolled 1143 Korean CMT families and excluded 344 families with a PMP22 duplication. We further analyzed the 799 remaining families to find their GNB4 mutations using whole-exome sequencing (WES). We identified two mutations (p.Gly77Arg and p.Lys89Glu) in three families, among which a heterozygous p.Gly77Arg mutation was novel. In addition, a significant uncertain variant (p.Thr177Asn) was observed in one family. The frequency of the GNB4 mutation in the Korean population is 0.38% in PMP22 duplication-negative families. All three families showed de novo mutation. Electrophysiological findings regarding the p.Lys89Glu mutation showed that the motor nerve conduction velocity (MNCV) of the median nerve was markedly reduced, indicating demyelinating neuropathy, and sural nerve biopsy revealed severe loss of myelinated axons with onion bulb formation. Lower extremity Magnetic Resonance Imaging (MRI) demonstrated relatively more severe intramuscular fat infiltrations in demyelinating type (p.Lys89Glu mutation) patients compared to intermediate type (p.Gly77Arg mutation) patients. The anterolateral and superficial posterior compartment muscles of the distal calf were preferentially affected in demyelinating type patients. Therefore, it seems that the investigated GNB4 mutations do cause not only the known intermediate type but also demyelinating-type neuropathy. We first presented three Korean families with GNB4 mutations and found phenotypic heterogeneities of both intermediate and demyelinating neuropathy. We suggest that those findings are useful for the differential diagnosis of CMT patients with unknown GNB4 variants.

The role of organ - and daylength - specific gene expression in bulb development and resource management in onion (ALLIUM CEPA L.)

Onion development is a complex process with each developmental event depending on the adequate supply of resources. Also, these resource components themselves are crucial nutrients in onion when consumed as food. For higher yield and better quality in onion production, it is essential to not only have a high level of photosynthesis but also effective transportation of photosynthetic products. A comprehensive set of spatial and developmental time-course experiments detailed the gene expression in onion leaf and bulb tissues during the development of a long-day onion cultivar under long-day and short-day conditions. Candidates included well characterised functional clock genes in Arabidopsis flowering pathway, as well as some novel sequences differentially expressed in bulb tissues. Both AcFT1 and AcFT4 showed significant increasing expression level during plant development, with AcFT1 being expressed in long-days during bulb formation and AcFT4 in short-days where bulbs are not formed. The data further support the role of AcFT1 as a promoter and AcFT4 as inhibitor in onion bulb formation. A number of genes associated with onion carbohydrate metabolism, sulphur metabolism and bulb development were identified as having different tissue-specific expression and provide targets for future studies.

Expanding the Spectrum of Chronic Immune Sensory Polyradiculopathy

ObjectiveSensory loss with normal nerve conduction studies (NCS) from focal sensory root inflammatory demyelination is characteristic of chronic immune sensory polyradiculopathy (CISP). However, nonpure cases involving motor and distal sensory nerves exist (CISP-plus). We hypothesize that CISP-plus and CISP are fundamentally part of the same syndrome through comparison of clinical, neurophysiologic, and pathologic features.MethodsCISP-plus (primary dorsal root with lesser motor and sensory nerve involvement) and CISP cases were retrospectively analyzed (1986–2019).ResultsWe identified 44 CISP-plus and 28 CISP cases (n = 72) with 86% (38/44) of patients with CISP-plus and 79% (22/28) of patients with CISP experiencing imbalance. On examination, large fiber sensory loss was present in 98% (43/44) of patients with CISP-plus and 96% (27/28) of patients with CISP. Gait ataxia was evident in 93% (41/44) of patients with CISP-plus and 79% (22/28) of patients with CISP. Mild distal weakness was common in CISP-plus (75%, 33/44). NCS showed mild abnormalities in all patients with CISP-plus and were normal (by definition) in all patients with CISP. Elevated CSF protein, slowing of somatosensory evoked potentials, and MRI root enhancement occurred in most CISP-plus and CISP cases. Eleven CISP-plus nerve biopsies showed loss of large myelinated fibers and onion-bulb formations, most prominent in rootlet biopsies. Immunotherapy resulted in marked improvement of gait ataxia in 84% (27/32) of patients with CISP-plus and 93% (13/14) of patients with CISP with return to normal neurologic examination in half (25/46).ConclusionThe recognition of CISP-plus expands the spectrum of CIDP by combining CISP-plus (predominant sensory polyradiculopathy with mild motor and sensory nerve involvement) with pure CISP (focal sensory polyradiculopathy) together as proximal sensory CIDP.

Localized Hypertrophic Neuropathy as a Neoplastic Manifestation of KRAS-Mediated RASopathy.

Localized hypertrophic neuropathy is a rare Schwann cell proliferation that usually affects single nerves from the extremities, and it is of unclear etiology in its pure form. RASopathies are a defined group of genetic diseases with overlapping clinical features, usually secondary to germline mutations in genes encoding either components or regulators of the RAS/MAPK pathway. Herein, we report an 11-year-old boy presenting with café au lait spots and right leg length discrepancy. A fascicular nerve biopsy of the tibial nerve demonstrated a Schwann cell proliferation with prominent onion-bulb formation, satisfying criteria for localized hypertrophic neuropathy. Molecular genetic analysis demonstrated identical KRAS mutations (c38_40dupGCG) in the peripheral nerve lesion and melanocytes from café au lait spots, but not in blood, supporting a diagnosis of a KRAS-mediated rasopathy with mosaicism. Immunohistochemical staining in the peripheral nerve lesion demonstrated strong pERK staining consistent with downstream MAPK pathway activation. This report suggests that at least a subset of localized hypertrophic neuropathies are bonafide, well-differentiated Schwann cell neoplasms developing through oncogenic RAS signaling, which provides new insights into the controversial entity historically known as localized hypertrophic neuropathy.

Diurnal expression of Arabidopsis Gene homologs during daylength-regulated bulb formation in onion (Allium cepa L.)

Bulb initiation in long-day onion is regulated at the physiological level in a similar way to the photoperiodic regulation of flowering in Arabidopsis. This study establishes in onion, the diurnal time-course expression, in onion, of key genes particularly linked to circadian regulation in Arabidopsis. The long-day onion variety ‘Renate’ and the short-day (SD) onion variety ‘Hojem’ were used for these experiments. Onion plants were grown under natural LD conditions in the Phytobiology Glasshouse and immediately after bulbing they were transferred to two SANYO 2279 controlled environment cabinets for 10 d providing constant LD (16 h photoperiod including 8 h fluorescent followed by 8 h incandescent light) and constant short days (8 h photoperiod with fluorescent light). Five FLOWERING LOCUS T (FT) and three CONSTANS-LIKE (COL) genes were identified in onion, including two novel COL sequences through RNA-Seq analysis. The new AcCOL2 shows a diurnal pattern of expression similar to Arabidopsis CONSTANS (CO). Allium cepa FLAVIN-BINDING, KELCH REPEAT, F-BOX PROTEIN 1 (AcFKF1), Allium cepa GIGANTEA (AcGI) and AcCOL2 showed good diurnal expression patterns consistent with photoperiod sensing and regulation of AcFT1. All FT genes exhibited different diurnal expression patterns peaking at different times of the day. Notably, AcFT1 was expressed in the later part of the day which is very similar to the expression of Arabidopsis FT, while AcFT4 was expressed late in the night and the early morning in both Renate and Hojem varieties of onion, with the caveat that, AcFT4 is under less stringent daylength control in Hojem than in Renate. The timing of the peaks and expression pattern in both Renate F1 and Hojem suggest that AcFT5 may be under circadian or diurnal regulation under LD conditions and AcFT6 might not be circadian or diurnally regulated. These findings will help to understand the basis of the difference between responses of onions adapted to different latitudes, which is important for developing new varieties.

Temporal and Spatial Expression of Arabidopsis Gene Homologs Control Daylength Adaptation and Bulb Formation in Onion (Allium cepa L.)

Genetic studies aimed at onion improvement have been limited because of high heterozygosity, a very large genome size with a high level of repetitive DNA and a biennial life cycle. Onion bulb initiation is daylength-dependent, which places a significant barrier to adapting new varieties for growth at different latitudes. Compared to the photoperiodic regulation of flowering, relatively little is known about genetic regulation of the bulbing process. This study aims to identify the role of gene sequences involved in daylength-regulated bulb formation and tissue specific expression of onion. A comprehensive set of developmental and spatial quantitative mRNA expression experiments were carried out to investigate expression of onion FLOWERING LOCUS T (AcFT), LEAFY (AcLFY) and GIBBERELLIN-3 OXIDASE (GA3ox1) during the bulbing response. Bulbing ratios were used to measure the response of onion plants under long day (LD) and short day (SD) conditions. AcFT1 was expressed in LD, which induces bulb formation, while AcFT4 was expressed in SD, which inhibits bulb formation. AcFT5 and AcFT6 were expressed in LD and might also be involved in bulb formation itself. All AcFT, AcLFY and GA3ox1 genes showed distinctive patterns of tissue specific expression in onion, with AcFT genes found primarily in the sites of perception in the leaf and LFY in the basal tissues, the site of response. The results are consistent with AcFT1 expression being the signal for LD-induced bulb initiation and AcFT4, being involved in suppressing bulbing in SD.

Clinicopathological characteristics of subtypes of chronic inflammatory demyelinating polyradiculoneuropathy

ObjectiveTo evaluate the clinical and pathological correlations characterising each clinical subtype of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP).MethodsWe assessed 106 consecutive patients who had CIDP fulfilling the European Federation of Neurological...

NRG1 type I dependent autoparacrine stimulation of Schwann cells in onion bulbs of peripheral neuropathies

In contrast to acute peripheral nerve injury, the molecular response of Schwann cells in chronic neuropathies remains poorly understood. Onion bulb structures are a pathological hallmark of demyelinating neuropathies, but the nature of these formations is unknown. Here, we show that Schwann cells induce the expression of Neuregulin-1 type I (NRG1-I), a paracrine growth factor, in various chronic demyelinating diseases. Genetic disruption of Schwann cell-derived NRG1 signalling in a mouse model of Charcot-Marie-Tooth Disease 1A (CMT1A), suppresses hypermyelination and the formation of onion bulbs. Transgenic overexpression of NRG1-I in Schwann cells on a wildtype background is sufficient to mediate an interaction between Schwann cells via an ErbB2 receptor-MEK/ERK signaling axis, which causes onion bulb formations and results in a peripheral neuropathy reminiscent of CMT1A. We suggest that diseased Schwann cells mount a regeneration program that is beneficial in acute nerve injury, but that overstimulation of Schwann cells in chronic neuropathies is detrimental.

Sugar accumulation and activities of enzymes involved in fructan dynamics from seedling to bulb formation in onion (Allium cepa L.)

Onion (Allium cepa L.) produces a fructose-based oligosaccharide (fructan) in the bulb as the major reserve carbohydrate. We previously found varietal differences in fructan quantity in the harvested bulbs; ‘Kita-momiji 2000’ accumulated a high level of fructans with a high degree of polymerization, while ‘Pole Star’ had low amounts and accumulated mainly monosaccharides and sucrose. In this study, we examined fructan accumulation and enzymatic activities involved in the fructan metabolic pathway in more detail in both aerial and subterranean tissues that were harvested throughout onion development. Analyses of fructan levels in the two cultivars revealed that levels in fructan accumulation were almost the same in aerial and basal leaves before bulb formation, but fructan levels differed significantly in the late stage after bulb formation; varietal differences in fructan content in the harvested bulb were apparent only during the 2 or 3 weeks before harvest. At an early developmental stage, fructan levels in ‘Pole Star’ were equivalent to those in ‘Kita-momiji 2000’, indicating that ‘Pole Star’ can synthesize highly polymerized fructans. In analyses of enzymatic activities, ‘Pole Star’ had high activity for synthesizing fructan after bulb formation compared to ‘Kita-momiji 2000’ and also greater potential for degrading sucrose and fructan before bulb formation, leading to less sucrose accumulation both in aerial and basal leaves. These results suggest that high activities for fructan degradation enzymes in ‘Pole Star’ cause less fructan accumulation in the bulb than in ‘Kita-Momiji 2000’ because this cultivar cannot sustain high levels of sucrose, the starting substrate for fructan synthesis.

Anti‐neurofascin 155 antibody‐related neuropathy

AbstractChronic inflammatory demyelinating polyneuropathy (CIDP) is an intractable inflammatory disease affecting peripheral nerves. The etiology of CIDP remains to be established, but it is regarded as a mixture of heterogeneous conditions presenting a variety of clinical and electrophysiological manifestations. In recent years, autoantibodies against paranodal cell adhesion molecules, such as neurofascin 155 (NF155), contactin 1 and contactin‐associated protein 1, have been detected in subsets of CIDP patients. The clinical characteristics of anti‐NF155 antibody‐positive CIDP have been delineated, and include a younger onset age, higher frequency of distal muscle weakness, sensory ataxia and tremor, higher cerebrospinal fluid protein levels, more conspicuous demyelination on nerve conduction studies, and nerve root hypertrophy on magnetic resonance neurography, when compared with anti‐NF155 antibody‐negative CIDP patients. Predominant elevation of immunoglobulin G4 subclass is also a characteristic of this disease. Sural nerve biopsy specimens of anti‐NF155 antibody‐positive CIDP patients show axo‐glial detachment in paranodes without inflammatory cell infiltrates or onion bulb formation. While intravenous immunoglobulin is not as effective as expected against anti‐NF155 antibody‐positive CIDP patients, other immunotherapies, such as corticosteroids, plasmapheresis and B‐cell depletion therapy, seem to be effective. Early diagnosis and treatment is important for preventing secondary axonal degeneration. The present review summarizes the emerging details of anti‐NF155 antibody‐related neuropathy.

Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort.

Charcot-Marie-Tooth 1A (CMT1A) caused by peripheral myelin protein 22 (PMP22) gene duplication is the most common form of hereditary polyneuropathy. Twenty-four genetically confirmed CMT1A patients with sural nerve biopsies were enrolled in this study. The clinical picture included a great variability of phenotype with mean onset age of 22.2 ± 14.5 years (1–55 years). Pathologically, we observed a severe reduction in myelinated fiber density showing three types of changes: pure onion bulb formation in 3 cases (12.5%), onion bulb formation with axonal sprouts in 10 cases (41.7%), and focally thickened myelin with onion bulb formation or/and axonal sprouts in 11 cases (45.8%). We observed no significant correlation between nerve fiber density and disease duration. There was no significant difference between the 3 pathological types in terms of clinical manifestations, nerve fiber density, and g-ratio. Our study indicates that there is marked variability in the age of onset of CMT1A, as well as significant pathological changes without deterioration with the development of the disease. Focally thickened myelin is another common morphological feature of demyelination.

Nerve pathologic features differentiate POEMS syndrome from CIDP.

The objective of this study is to determine if the nerve pathology in patients with POEMS syndrome is different from CIDP. We hypothesized that nerve biopsies from patients with POEMS syndrome would have more small vessels and axonal degeneration but less inflammation than CIDP.We performed a retrospective analysis of nerve biopsies performed on “classic” CIDP and POEMS cases. Nerve biopsies were blinded and reviewed by two of the authors (EAP, PJBD). Teased fibers, paraffin-embedded sections, semithin sections and immunostains were analyzed. Small endoneurial and epineurial vessels were counted on paraffin sections with smooth muscle actin (SMACTIN) preparation to judge for neovascularization.A total of 61 cases (35-POEMS, 26-CIDP) were included. The POEMS-group had significantly higher axonal degeneration and fewer normal myelinated fibers on teased fiber preparations. The CIDP-group had significantly more endoneurial mononuclear inflammation on paraffin sections and immunostains. Large onion-bulbs were present only in CIDP cases. A significantly higher number of epineurial vessels was present in POEMS biopsies, with a total count of 120 epineurial vessels predicted as best cutoff to differentiate both conditions (77 % specific and 54 % sensitive).In conclusion, nerve biopsy can be helpful in distinguishing POEMS syndrome from CIDP. POEMS syndrome demonstrates more axonal degeneration and epineurial neovascularization whereas CIDP has greater endoneurial inflammation and onion-bulb formation. These findings support the idea that there are differing underlying mechanisms for these disorders, POEMS being related to paraneoplastic vasculopathy associated with angiogenic factors and CIDP related to inflammatory demyelination.

IDENTIFICATION OF BULBING HORMONE GENES IN ONION (Allium cepa)

<p>Initiation of onion (Allium cepa L.) bulb formation seems to require “bulbing hormone” which has been considered to be produced in leaf blades in response to the stimulus of long day conditions. But “bulbing hormone” is not yet identified. Previous study revealed a protein called Flowering locusT (FT) as flowering hormone, florigen. FT act for flowering by change on the day length on the higher plants. Objective of this study is identify”bulbing hormone” in onion plants. Method used in this study are cloning gene and gene expression analysis of the FT in onion plants.Full length of cDNA was cloned by the degenerate PCR and 5’­and 3’-RACE method.As a result, six kinds of full length cDNA clones for FThomologs in onion plants were obtained.These genes were named AcFT1 to6. By expression analysis of these genes, AcFT4, 5 and 6,expression increased as it got closer to a condition in long days in association with the bulbing of onion. Furthermore, in order to investigate the functions of these genes, we optimize transformation methods for onion plants. Medium containing 2,4-Dand kinetin showed high efficient plant regeneration from seed-derived callus of onion. Medium containing 2,4-D and kinetin as plant growth regulators is effective for induction of shoot-inducible callus, and advance shoots were developed from the callus on the shoot induction medium which contained thidiazuron, benzyl adenine or trans-zeatin as cytokinins. In conclusion, bulbing hormone in onion plants were possibly gene AcFT4, 5,6.</p><p><br /><strong>Keywords</strong> : Allium cepa L, bulbing hormone gene, Flowering locusT</p>