• Journal of Genetic Medicine
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• v.6 no.1
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• pp.25-37
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• 2009

Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into several subtypes. Here, we review the most recent findings in the molecular diagnosis and therapeutic strategy for hereditary peripheral neuropathies. The products of genes associated with hereditary peripheral neuropathy phenotypes are important for neuronal structure maintenance, axonal transport, nerve signal transduction, and functions related to the cellular integrity. Identifying the molecular basis of hereditary peripheral neuropathy and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, as well as the processes involved in the normal development and function of the peripheral nervous system. These advances and the better understanding of the pathogenesis of peripheral neuropathies represent a challenge for the diagnoses and managements of hereditary peripheral neuropathy patients in developing future supportive and curative therapies.

• Molecules and Cells
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• v.43 no.10
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• pp.880-888
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• 2020

Inherited peripheral neuropathy is a heterogeneous group of peripheral neurodegenerative disorders including Charcot-Marie-Tooth disease. Many peripheral neuropathies often accompany impaired axonal construction and function. To study the molecular and cellular basis of axon-defective peripheral neuropathy, we explore the possibility of using Caenorhabditis elegans, a powerful nematode model equipped with a variety of genetics and imaging tools. In search of potential candidates of C. elegans peripheral neuropathy models, we monitored the movement and the body posture patterns of 26 C. elegans strains with disruption of genes associated with various peripheral neuropathies and compiled a database of their phenotypes. Our assay showed that movement features of the worms with mutations in HSPB1, MFN2, DYNC1H1, and KIF1B human homologues are significantly different from the control strain, suggesting they are viable candidates for C. elegans peripheral neuropathy models.

• Journal of Genetic Medicine
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• v.4 no.2
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• pp.115-121
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• 2007

Hereditary motor and sensory neuropathy (HMSN; Charcot-Marie-Tooth disease, CMT) was first described by Charcot and Marie in France and, independently, by Tooth in England in 1886. HMSN is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Using positional cloning methods, the chromosomal localization (locus) of more than 40 inherited peripheral neuropathies was found in the last 15 years. However, these genetic analyses also show that many entities do not show linkage to the known loci. This issue deals with a clinical survey of inherited peripheral neuropathies regarding diagnostic approaches based on the molecular findings.

• Annals of Clinical Neurophysiology
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• v.9 no.2
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• pp.43-50
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• 2007

Analysis of intraepidermal nerve fibers using skin biopsy is a recently developed technique, providing diagnostic information on small fiber neuropathies. The specimens are obtained by 3 mm punch biopsy, which is safe and minimally invasive. Immunohistochemical staining by Protein gene product (PGP) 9.5 demonstrate not only intraepidermal nerve fibers but dermal structures, such as sweat gland and erector papillae. Up to now, many studies agree that intraepidermal nerve fiber density is dramatically reduced in various sensory neuropathies. The utility of density measure was confirmed with high sensitivity in the diagnosis of sensory neuropathy, comparable to sural nerve biopsy or quantitative sensory testing. Besides quantitative methods, morphological changes like axonal swelling and fragmentation can be used as predegenerative markers. This article reviews the technique of skin biopsy and clinical and experimental usefulness of skin biopsy in diagnosing and monitoring peripheral neuropathies.

• Molecules and Cells
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• v.39 no.5
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• pp.382-388
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• 2016

Inherited peripheral neuropathies (IPN), which are a group of clinically and genetically heterogeneous peripheral nerve disorders including Charcot-Marie-Tooth disease (CMT), exhibit progressive degeneration of muscles in the extremities and loss of sensory function. Over 70 genes have been reported as genetic causatives and the number is still growing. We prepared a targeted gene panel for IPN diagnosis based on next generation sequencing (NGS). The gene panel was designed to detect mutations in 73 genes reported to be genetic causes of IPN or related peripheral neuropathies, and to detect duplication of the chromosome 17p12 region, the major genetic cause of CMT1A. We applied the gene panel to 115 samples from 63 non-CMT1A families, and isolated 15 pathogenic or likelypathogenic mutations in eight genes from 25 patients (17 families). Of them, eight mutations were unreported variants. Of particular interest, this study revealed several very rare mutations in the SPTLC2, DCTN1, and MARS genes. In addition, the effectiveness of the detection of CMT1A was confirmed by comparing five 17p12-nonduplicated controls and 15 CMT1A cases. In conclusion, we developed a gene panel for one step genetic diagnosis of IPN. It seems that its time- and cost-effectiveness are superior to previous tiered-genetic diagnosis algorithms, and it could be applied as a genetic diagnostic system for inherited peripheral neuropathies.

• Korean Journal of Biological Psychiatry
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• v.4 no.1
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• pp.108-115
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• 1997

The alcoholic neuropathies developed in approximately 34% of chronic alcoholics and the sexual dysfunction had been experienced in 8-54% of male alcoholics(Schiavi 1990). The aims of this study were to identify the prevalence of subclinical polyneuropathies and sexual disorders in alcohol dependence, and to evaluate the association between them. The nerve conduction velocity(NCV), electromyography(EMG), and pudendal somatosensory evoked potentials(SEPs) were tested for the male alcoholics(N=34) and controls(N=17 for NCV & EMG, N=25 for pudendal SEPs). The pudendal SEPs were measured by the following procedures, in which we stimulated the dorsal nerve of penis attached by the ring electrode(stimulus intensity, three times of threshold : stimulus rate, 1-4.7Hz : stimulus duration, 0.1 or 0.2msec), and recorded at the scalp(active electrode, 2cm behind Cz : reference electrode, Fz). The NCV and EMG detected signs of peripheral neuropathies in 79.4% of alcoholics. Among the alcoholics, 64.7% were abnormal on the pudendal SEPs. Among the alcoholics who revealed abnormality on EMG and NCV, 81.4% were abnormal on the pudendal SEPs, in which 51.9% were not responded. The P1 latencies of pudendal SEPs on neuropathic alcoholics were significantly delayed(p<0.05) than non-neuropathic alcoholics. There was a relative correlation between peripheral neuropathies and sexual disorders in the alcoholics. The prevalence of subclinical neuropathies and sexual disorders seemed to be much higher in alcohol dependence than expectation, and these two problems were relatively correlated, and our results suggested that the peripheral polyneuropathies were one of the prerequisites of sexual disorders.

• Annals of Clinical Neurophysiology
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• v.22 no.1
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• pp.1-7
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• 2020

Neuromuscular ultrasonography has emerged over the last decade as a useful tool for diagnosing peripheral nerve disorders. It has been studied extensively with a particular focus on the assessment of compression neuropathies. Neuromuscular ultrasonography complements electrodiagnostic studies well by visualizing both the nerve anatomy and surrounding structures, providing useful data that cannot be obtained using the latter methodology only. This review article summarizes and synthesizes the literature focusing on the diagnostic role of neuromuscular ultrasonography in common compression neuropathies of the upper limb.

• Annals of Clinical Neurophysiology
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• v.24 no.2
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• pp.46-52
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• 2022

Ultrasonography is currently being developed as a tool for evaluating peripheral neuropathy. It is one of the painless and least-invasive methods of medical diagnostic testing that yields anatomic views of the nerves and their surrounding structures. Here I first describe the equipment settings and technique for nerve ultrasound along with typical sonographic findings for normal nerves. I then address frequently used parameters for nerve measurements that facilitate diagnoses of focal and generalized neuropathies.

• Annals of Clinical Neurophysiology
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• v.7 no.2
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• pp.65-74
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• 2005

Charcot-Marie-Tooth (CMT) disease was described by Charcot and Marie in France and, independently, by Tooth in England in 1886. CMT is the most common form of inherited motor and sensory neuropathy, and is a genetically heterogeneous disorder of the peripheral nervous system. Therefore, many genes have been identified as CMT-causative genes. Traditionally, subclassification of CMT have been divided into autosomal dominant inherited demyelinating (CMT1) and axonal (CMT2) neuropathies, X-linked neuropathy (CMTX), and autosomal recessive inherited neuropathy (CMT4). Recently, intermediate type (CMT-Int) with NCVs between CMT1 and CMT2 is considered as a CMT type. There are several related peripheral neuropathies, such as $D{\acute{e}}j{\acute{e}}rine$-Sottas neuropathy (DSN), congenital hypomyelination (CH), hereditary neuropathy with liability to pressure palsies (HNPP) and giant axonal neuropathy (GAN). Great advances have been made in understanding the molecular basis of CMT, and 17 distinct genetic causes of CMT have been identified. The number of newly discovered mutations and identified genetic loci is rapidly increasing, and this expanding list has proved challenging for physicians trying to keep up with the field. Identifying the genetic cause of inherited neuropathies is often important to determine at risk family members as well as diagnose the patient. In addition, the encouraging studies have been published on rational potential therapies for the CMT1A. Now, we develop a model of how the various genes may interact in the pathogenesis of CMT disorder.

• The Journal of Korean Medicine
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• v.27 no.4
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• pp.135-141
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• 2006

We were to assess clinical effectiveness, safety and usefulness of Kyejibokryung-hwan (KBH), which has been used for Er-hyul similar with vascular or neurologic disorders causing sensory or motor abnormalities. This study is a retrospective single case series. Two hundred ninety five patients were treated with KBH for various neuropathies in our hospital. Of them, 120 cases were excluded because of insufficient medical records or failure to follow up; the remaining 175 were included in the analysis. There were 18 patients with sensory abnormalities and 28 with motor abnormalities after stroke. Of peripheral type, there were 14 with diabetic neuropathy, 12 with carpal tunnel syndrome, 41 with spinal radiculopathies, and 62 with idiopathic neuropathies, for which the effectiveness was assessed as 55.6%, 21.4%, 64.3%, 83.3%, 45.0%, and 56.5%, respectively. Adverse effects including indigestion or diarrhea were seen in 3.4% of the total patients. Taking the effectiveness and the safety together into consideration, the usefulness was assessed as 55.6%, 21.4%, 64.3%, 83.3%, 45.0%, and 54.8% for treating post-stroke sensory and motor abnormalities, diabetic neuropathy, carpal tunnel syndrome, spinal radiculopathies, and idiopathic neuropathies, respectively. In conclusion, we suggest that KBH is a useful herbal medicine for various neuropathies, especially of sensory type.