Atypical presentation of Charcot-Marie-Tooth disease type 2Q by mutations on DHTKD1 and NTRK2 genes / Presentación atípica de enfermedad de Charcot-Marie-Tooth tipo 2Q por mutaciones en los genes DHTKD1 y NTRK2

Abstract Background: Charcot-Marie-Tooth disease type 2Q (CMT2Q) is a rare disorder (< 1/1,000,000 individuals worldwide) linked to chromosome 10p14 in the DHTKD1 gene. This phenotype is characterized by an adolescent or adulthood-onset, slowly progressive distal muscle weakness and symmetrical atrophy associated with reduced or absent deep tendon reflexes. Currently, only two familiar cases from China have been reported: one familiar case of eight individuals affected by isolated DHTKD1 gene mutation and one familiar case of two individuals affected by DHTKD1 gene mutation and GJB1 gene mutation. Case report: We present the case of a 10-year-old male patient with obesity, frequent falls, swollen legs and thighs, and pain in the lower and upper limbs. We performed the clinical evaluation and a clinical targeted exome test, which reported mutations on DHTKD1 y NTRK2 genes. Conclusions: Due to scientific and technological advances, genetic dysfunctions that can cause different diseases have been identified with greater sensitivity. Globally, this is the eleventh case reported of DHTKD1 gene mutation linked to CMT2Q. Moreover, this is the first case related to NTRK2 gene mutation (linked to obesity, hyperphagia, and delayed development). The patient showed an atypical CMT2Q phenotype additional to obesity. Therefore, we propose to study metabolic disorders linked to hereditary peripheral neuropathies.

Resumen Introducción: La enfermedad de Charcot-Marie-Tooth tipo 2Q (CMT2Q) es una alteración poco frecuente (< 1/1,000,000 habitantes en todo el mundo) condicionada por mutaciones en el gen DHTKD1, localizado en el cromosoma 10p14. El padecimiento inicia en la adolescencia o la edad adulta de manera lenta y progresiva, con debilidad muscular y atrofia distal simétrica, y afecta predominantemente las extremidades inferiores y los reflejos tendinosos profundos, que se encuentran reducidos o ausentes. Solo se ha reportado un caso familiar de ocho personas afectadas con la mutación aislada en el gen DHTKD1 y un caso familiar de dos personas afectadas con mutaciones en los genes DHTKD1 y GJB1, ambas familias de China. Caso clínico: Se presenta el caso de un paciente de sexo masculino de 10 años y 11 meses de edad con obesidad, caídas frecuentes, edema de miembros pélvicos y dolor en las extremidades inferiores y superiores. Se realizaron valoración clínica y estudio genético molecular de exoma dirigido, el cual reportó mutaciones en los genes DHTKD1 y NTRK2. Conclusiones: Gracias al avance científico y tecnológico se han podido identificar con mayor precisión las alteraciones genéticas causantes de diferentes enfermedades. Este es el undécimo caso reportado en el mundo de una mutación en el gen DHTKD1 asociada con la enfermedad de CMT2Q. También es el primer caso relacionado con una mutación del gen NTRK2 (asociada con obesidad, hiperfagia y retraso en el desarrollo). El paciente presentó un cuadro clínico atípico de enfermedad de CMT2Q agregado a obesidad. Por ello, se sugiere estudiar a fondo la conexión entre trastornos metabólicos y neuropatías periféricas hereditarias.

Five Chinese patients with mitochondrial diseases caused by POLG gene mutations / 中华神经科杂志

Objective To report the clinical features, myopathological changes, and gene mutations in five Chinese patients with mitochondrial diseases caused by POLG gene mutations. Methods Clinical materials of five unrelated patients who were referred to Department of Neurology, Peking University First Hospital from April 2012 to January 2018, carrying POLG gene mutations, were retrospectively analyzed. Muscle/nerve biopsies and targeted second-generation gene sequencing were performed on the patients. Results Among the five patients, three were male and two were female. Two cases were dominant inheritance and three were sporadic or recessive inheritance. The ages of onset were from 15 to 40 years with disease course of one to 26 years. One of them showed atypical SANDO (sensory ataxic neuropathy, dysarthria, and ophthalmoparesis) syndrome accompanied by cardiac preexcitation syndrome. There were two cases with autosomal dominant and one case with recessive progressive external ophthalmoplegia plus syndrome. One case presented with cognitive delay and sensory neuropathy. The pathological changes of mitochondrial myopathy were observed in all four patients with muscle involvement. Sural nerve biopsy in the patient with cognitive delay and sensory ataxia revealed chronic axonal pathological changes. POLG gene mutations were found in all five patients by targeted next generation sequencing, including single heterozygous mutations in two dominant inherited patients (c. 914 G＞A and c. 2864A＞G, respectively), and compound heterozygous POLG gene mutations in the other three sporadic/recessive inherited patients (c. 2591 A＞G/c. 1790 G＞A, c. 924G＞T/c. 3002delG and c. 1613A＞T/c. 1612 G＞T, respectively). There were six novel mutations not reported before, i.e., c.914G＞A(p.S305N), c.924G＞T(p.Q308H), c.1613A＞T(p.E538V), c.1612G＞T(p.E538*), c.1790 G＞A(p.R597Q) and c.3002delG. Conclusions POLG gene mutations can lead to different clinical spectrums. Progressive external ophthalmoplegia, limb weakness and axonal sensory neuropathy are common presentations in this group of patients with POLG gene related mitochondrial neuromuscular diseases. Novel mutations found in this study expand the mutational spectrum of POLG gene.

Experience and understanding of sensory neuropathy in the Filipino context

@#<p style="text-align: justify;"><strong>BACKGROUND: </strong>Locally, understanding and communicating sensory neuropathy may be confounded by a "comprehension gap" during consults and limited "nerve literacy" or knowledge of patients about nerves. This may affect the effectiveness of healthcare.<br /><strong>OBJECTIVE:</strong> The study aims to describe the Filipino patients' experience of sensory neuropathy in local terms and their understanding of its causation.<br /><strong>METHODS:</strong> A cross-sectional, descriptive study among 24 patients with sensory neuropathy was done using semi-structured individual interviews. The first part elicited Filipino terms and descriptions used to explain their experience. The second part elicited perceived cause pre- and post- consult and perceived body part affected.<br /><strong>RESULTS:</strong> The most common descriptors of sensory neuropathy include "manhid", "kuryente", "tinutusuk-tusok", "ngalay", "kirot", and "naninigas". Many would initially identify "pasma" as a cause. Post-consult, many would cease to see it as part of natural ageing and would identify structural explanations such as impingement. They would however attribute it to an affectation of "ugat" which most defined as blood vessels.<br /><strong>CONCLUSION:</strong> The abovementioned terms are commonly used to describe sensory neuropathy and can be clinically useful in eliciting symptoms. There is existing confusion with regards to the nerve as a structure involved even after consultation.</p>

Pé cavo: revisão da literatura / Cavus foot: review

OBJETIVO: Realizar uma revisão sobre o pé cavo, sua fisiopatologia, avaliação clínica, diagnósticos diferenciais com ênfase na doença de Charcot-Marie-Tooth e tratamento. MÉTODO: Revisão não sistemática de artigos abordando a fisiopatologia do pé cavo, avaliação clínica, diagnósticos diferenciais e tratamento. RESULTADOS E DISCUSSÃO: Foram utilizados 33 artigos de língua inglesa e 02 artigos em português para a confecção desta revisão. CONCLUSÃO: O pé cavo é geralmente secundário a doenças neurológicas, em especial a doença de Charcot-Marie-Tooth e raramente é originado por doenças não neurológicas. O diagnóstico etiológico do pé cavo permite um melhor tratamento, cirúrgico ou não, com adequada orientação ao paciente quanto ao prognóstico e eficácia da terapia.

OBJECTIVE: We realize a review about cavus foot, discussing pathophysiology, clinical evaluation, differential diagnosis with emphasis on Charcot-Marie-Tooth Disease and treatment. METHOD: We perform a non-systematic review of articles about cavus foot pathophysiology, physical examination, etiology and treatment. RESULTS AND DISCUSSION: We used 33 articles in english and 02 articles in portuguese for this review. CONCLUSION: The cavus foot is mostly a consequence of neurological etiologies, in particular Charcot-Marie-Tooth disease and rarely is caused by non-neurological diseases. The correct diagnosis allows better treatment, conservative or surgical, with appropriate guidance to patients in terms of prognosis and therapy effectiveness.

Assessment of Change in Palatal Sensation in Obstructive Sleep Apnea Patients by Using Two-Point Palatal Discrimination

OBJECTIVES: Patients with obstructive sleep apnea syndrome (OSAS) have impaired responses to inspiratory resistive loading during sleep. This may be due, in part, to a change in the upper airway sensation. Therefore, we hypothesized that patients with OSAS have diminished upper airway sensation due to snoring. METHODS: A total of 53 participants were selected based on clinical evaluation and polysomnography. Two-point discrimination was measured with modified calipers in the tongue and soft palate. RESULTS: A total of 10 participants were included in the control group, 12 participants in the simple snoring group, and 27 participants in the OSAS group. There were 12 patients in the impaired sensation group of the OSAS group. On comparing polysomnography, patients with impairment of their palatal sensory input in two-point discrimination (TPD) had a more protracted duration of the longest snoring episode than those with simple snoring and normal sensation. Patients with decreased sensory input in TPD had longer average duration of snoring episodes and relative snoring time than those with simple snoring and normal sensory input in cold uvular TPD. Comparison of the cold uvular TPD for normal sensation and impaired sensation in patients with OSAS after treatment showed a different trend. CONCLUSION: Impaired sensation of the soft palate was correlated with the longest snoring episode duration, average snoring episode duration, and relative snoring time. It is helpful in detecting the early stage of neural degradation in OSAS patients by assessing snoring components of polysomnography and TPD in the soft palate.

Neuronopatía sensitiva: Su reconocimiento y tratamiento temprano / Sensory neuronopathy. Its recognition and early treatment

Las neuronopatías o ganglionopatías sensitivas, o enfermedades del ganglio dorsal, representan un subgrupo de enfermedades del sistema nervioso periférico, frecuentemente asociadas a trastornos disinmunes o paraneoplásicos, y a agentes tóxicos. Los pacientes típicamente presentan ataxia temprana, pérdida de los reflejos osteotendinosos y síntomas sensitivos positivos, presentes tanto en partes proximales como distales del cuerpo. Estudiamos retrospectivamente 10 casos con un diagnóstico final de neuronopatía sensitiva. El síntoma de presentación fue el de una neuropatía sensitiva de curso subagudo en todos los casos, con parestesias en el 100% de los casos. Otras manifestaciones fueron: hipoestesia (10/10), ataxia de la marcha (8/10), síntomas autonómicos (3/10) y parestesias periorales (3/10). La electrofisiología mostró un patrón de compromiso sensitivo axonal, con respuestas motoras normales. El diagnóstico final fue neuronopatía sensitiva adquirida en todos, asociada a síndrome de Sjögren en dos, a lupus eritematoso en uno, a artritis reumatoidea en uno, a cáncer en dos (paraneoplásica) e idiopática en cuatro. En los casos paraneoplásicos, los tumores fueron un carcinoma de pulmón de células pequeñas (con anticuerpos anti-Hu positivos) y un carcinoma epidermoide de pulmón. Ocho pacientes fueron tratados con inmunoterapia, con altas dosis de metilprednisolona endovenosa y/o con inmunoglobulina endovenosa; con pobre respuesta en cuatro casos, mejoría neurológica en cinco, y sin cambios en uno. El presente trabajo muestra el patrón clinico y electrofisiológico de las neuronopatías sensitivas subagudas, y la relevancia de un tratamiento temprano.

Sensory neuronopathies or ganglionopathies, or dorsal root ganglion disorders, represent a subgroup of peripheral nervous system diseases, frequently associated with dysinmune or neoplastic disorders and with toxic agents. A degeneration of both central and peripheral sensory proyections is present. Patients typically show early ataxia, loss of deep tendon reflexes and positive sensory symptoms present both in proximal and distal sites of the body. We retrospectively studied 10 cases with a final diagnosis of sensory neuronopathy. Sensory neuropathy was the presenting symptom and the course was subacute in all cases. Paresthesias in upper limbs were a predominant manifestation (100%). Other manifestations included: hypoesthesia (10/10), gait ataxia (8/10), autonomic symptoms (3/10) and perioral paresthesias (3/10). Electrophysiology showed sensory axonal neuronal pattern, with normal motor responses. Final diagnosis was acquired sensory neuronopathy in all patients, associated with Sjögren’s syndrome in 2, with lupus erythematosus in 1, with rheumatoid arthritis in 1, with a cancer in 2 (paraneoplastic) and idiopathic in 4. In paraneoplastic cases, the tumor was small cell lung cancer in 1 (with positive anti-Hu antibodies), and epidermoid lung cancer in the other. Eight patients were treated with immunotherapy, high dose intravenous methylprednisolone and/or intravenous immunoglobulin; with poor response in 4 cases, neurologic improvement in 5, and without any change in 1 patient. The present work shows the typical clinical and electrophysiological pattern of subacute sensory neuronopathy, and the relevance of early treatment.

The pathophysiological mechanisms of HIV-related neuropathic pain / 医学研究生学报

HIV-related sensory neuropathy ( HIV-SN) mainly contains the HIV infection-related distal sensory polyneuropa-thy (DSP) and antiretroviral toxic neuropathies (ATN).HIV-DSP is associated with proinflammatory cytokines , chemokines, ros and which is induced by gp 120;and HIV-ATN may be related to mitochondrial toxicity which is induced by the application of anti retroviral drugs, such as ddC, and similar as the molecular mechanism of HIV-DSP, this means that the current conventional method for the treatment of neuropathic pain in AIDS may further aggravate the neuropathic pain of the patient .Therefore, developing the study on the neurochemical and pharmacological mechanisms of HIV-related neuropathic pain will provide novel targets for the new effective drugs .

Progress of research on gabapentin for refractory chronic cough / 中国生化药物杂志

Objective To review advance of gabapentin in treatment of refractory chronic cough, and to provide evidence for its clinical usage and further study.The original articles referring to gabapentin’ s effect on sensory neuropathy such as refractory chronic cough, which were retrieved from CNKI, Wanfang Medical Network, as well as PubMed over the last 15 years, were reviewed.The safety, efficacy and its mechanism of gabapentin were sorted, generalized and analyzed.Gabapentin appears to be effective and safe in the treatment of sensory neuropathic disorder such as refractory chronic cough, and its effective treatment results may come ture through improving central sensitization, which indicates the drug has new clinical application value.Relevant clinical trials investigating its efficacy and safety profile in the treatment of cough are limited and further research are needed.

Sensory Neuropathy of the Common Palmar Digital Nerve Caused by Ganglion Cyst

Ganglion cysts that arise from the palm and compress the median nerve are rarely reported. Previous studies have described ganglion cysts compressing the motor branch of the median nerve, but no reports have described sensory neuropathy of the common palmar digital nerve as a result of ganglion cysts. We present a case of sensory neuropathy similar to carpal tunnel syndrome caused by a ganglion cyst that originated from the second carpometacarpal joint.

Link between distal sensory polyneuropathy, insulin-like growth factor-I and bone mineral density in elderly diabetics.

Background: The association between Distal Sensory Polyneuropathy (DSP) and systemic osteopenia was studied before in type 1 Diabetes Mellitus (DM), however, is not all clear, with scanty researches in type 2 DM. In addition, Insulin-like Growth Factor-I (IGF-1) could be the most important mediator of bone growth, and an important neurotrophic factor for peripheral sensory neurons. Therefore, the aim of this study was to study the association between bone mineral density (BMD) and DSP, in elderly patients with type 2 DM, and the link between IGF-1 and both BMD and DSP. Methods: Eighty eight elderly patients, aged ≥60 years, were involved in this case (43 diabetics with DSP and 17 diabetics without DSP) - control (28 non diabetics) study. BMD and IGF-1 were measured. Results: There was no significant difference between cases and controls regarding T score of either lumbar spine or femoral neck or IGF-1 (P = 0.83, 0.96 and 0.17 consecutively). DM without DSP had higher IGF-1 than both DM with DSP& the control group (P = 0.011 and 0.010 consecutively). IGF-1 was a significant predictor of T score of both femoral neck and lumbar spine, only in the control group (P = 0.008 and <0.001 consecutively) (OR=1.44 and 2.4 consecutively) (CI=1.1-1.9 and 1.9-3.1 consecutively). Neither DSP nor IGF-1 was (were) a significant predictor of BMD in diabetics. Conclusion: There was no association between type 2 DM and BMD. IGF-1 was higher in diabetics without DSP than those with DSP or the control group. IGF-1 was a positive predictor of BMD only in the control group.

Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux / Caracterização clínica e neurofisiológica de uma família europeia com neuropatia sensitiva hereditária, tosse paroxística e refluxo gastroesofágico

In 2002, Spring et al reported a family with an autosomal dominant form of hereditary sensory neuropathy; patients also presented adult onset of gastroesophageal reflux and cough. Since then, no further families have been described. Objective: To study a new Portuguese family with these characteristics. Method: To describe the clinical and neurophysiologic characteristics of one family with features of sensory neuropathy associated with cough and gastroesophageal erflux. Results: Three of five siblings presented a similar history of paroxysmal cough (5th decade). About a decade later they experienced numbness and paraesthesia in the feets and in all cases there was evidence of an axonal sensory neuropathy. A history of gastroesophageal reflux of variable severity and age of onset was also present. Discussion: Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes. The identification of these families is of major importance because further work is required to identify the underlying genetic defect. .

Em 2002, Spring et al descreveram uma família com uma combinação de polineuropatia sensitiva hereditária, doença do refluxo gastroesofágico e tosse paroxística. Desde então não foram descritos outros casos. Objectivo: Estudar uma nova família portuguesa com essas características. Método: Caracterização clínica e neurofisiológica de uma família com a referida combinação de patologias. Resultados: Três, de cinco irmãos, apresentam uma história semelhante de tosse paroxística com início na 5a década. Cerca de uma década mais tarde iniciam quadro de parestesias em ambos os pés, com evidência de neuropatia sensitiva axonal. Todos os casos apresentam também uma história de doença do refluxo gastroesofágico de gravidade variável. Discussão: Nos últimos anos, os estudos de genética molecular permitiram evidenciar a heterogeneidade genética dos vários subtipos de polineuropatia sensitiva hereditária tipo 1. A identificação das famílias afectadas reveste-se de grande importância, nomeadamente na tentativa de caracterização da alteração genética deste subtipo. .

Function disability evaluation in hereditary motor and sensory neuropathy pediatric patients / 中华实用儿科临床杂志

Hereditary motor and sensory neuropathy is the most common peripheral neuropathy.It is slowly progressive,proximal limb weakness and muscular dystrophy and severe foot deformity can cause function disability.For most patients were diagnosed in early children,so function disability evaluation and effective treatment from children is significant to their prognosis.

The value of plasma C-peptide levels in early prediction of type 2 diabetes mellitus with peripheral sensory neuropathy / 中国医师进修杂志

Objective To explore the value of plasma C-peptide levels in early prediction of type 2 diabetes mellitus with peripheral sensory neuropathy.Methods The vibration perception threshold,pain,temperature sensation,touch-pressure sensation,ankle reflex was detected in 500 eases of type 2 diabetes mellitus,and the patients were divided into 4 groups according to peripheral sensory nerve test results:normal group (159 cases),mildly abnormal group (120 cases),moderately abnormal group (121 cases) and severely abnormal group (100 cases).Fasting and 2-hour postprandial C-peptide levels were determined and analysed with peripheral sensory nerve changes.The receiver-operating characteristic (ROC) curve was used to find the best critical point for diagnosis of diabetic peripheral sensory neuropathy.Results The fasting C-peptide among 4 groups had no significant difference (F =1.632,P ＞0.05).Two-hour postprandial C-peptide from normal group to mildly abnormal group and then moderately abnormal group gradually increased [(1.110 ± 0.526),(1.324 ± 0.490),(1.573 ± 0.716) μ g/L],while 2-hour postprandial C-peptide in severely abnormal group was significantly decreased and lower than that in normal group,and there were significant differences (P＜ 0.05).The max Youden Index was 0.366 when 2-hour postprandial C-peptide was 1.173 μ g/L.Conclusions The fasting C-peptide might be not related to early diabetic peripheral sensory neuropathy,but 2-hour postprandial C-peptide might be closely related to early diabetic peripheral sensory neuropathy.It is helpful to detect the early diabetic peripheral sensory neuropathy if we can take a dynamical observation of 2-hour postprandial C-peptide.

Sensory Guillain-Barre syndrome presenting as 'Burning Feet Syndrome': A case report / 대한소아신경학회지

The existence of purely sensory Guillain-Barre syndrome (GBS) is controversial, although diagnostic criteria have been established and several cases have been reported. Motor nerve conduction studies (NCS) have found that most GBS cases present with some motor weakness or abnormality, and seem to be predominantly sensory rather than purely sensory types. A 12-year-old girl presented at our hospital with acute onset, severe stabbing pains in both feet. Clinical and electrophysiological studies revealed normal motor nerve functions but decreased or absent sensory nerve action potentials. Cerebro-Spinal Fuild (CSF) examinations demonstrated albuminocytologic dissociation. Following intravenous gammaglobulins and high dose methylprednisolone, she experienced gradual pain reduction and recovery to near normal status. We here describe this rare case of purely sensory GBS presenting with burning feet syndrome.

Hereditary Motor and Sensory Neuropathy Type VI with Bilateral Middle Cerebellar Peduncle Involvement

Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI.

Dynamic Transcriptional Events in Distal Sural Nerve Revealed by Transcriptome Analysis

Compared with biochemical information available about the diseases in the central nervous system, that for peripheral neuropathy is quite limited primarily due to the difficulties in obtaining samples. Characterization of the core pathology is a prerequisite to the development of personalized medicine for genetically heterogeneous diseases, such as hereditary motor and sensory neuropathy (HMSN). Here, we first documented the transcriptome profile of distal sural nerve obtained from HMSN patients. RNA-seq analysis revealed that over 12,000 genes are expressed in distal sural nerve. Among them 4,000 transcripts are novel and 10 fusion genes per sample were observed. Comparing dataset from whole exome sequencing revealed that over 1,500 transcriptional base modifications occur during transcription. These data implicate that dynamic alterations are generated when genetic information are transitioned in distal sural nerve. Although, we could not find significant alterations associated with HMSN, these data might provide crucial information about the pathophysiology of HMSN. Therefore, next step in the development of therapeutic strategy for HMSN might be unveiling biochemical and biophysical abnormalities derived from those potent variation.

Anatomical Landmark Analysis of Medial Plantar Proper Digital Nerve:a Cadaver Dissection Study

OBJECTIVE: To analyze the bifurcating points of medial plantar proper digital (MPPD) nerve by using anatomical landmarks on plane coordinates and thus determine the ideal stimulation site for MPPD sensory nerve conduction studies. METHOD: We dissected 10 feet from five adult cadavers and identified the bifurcation points of the MPPD nerve. Two reference lines in relation to anatomical landmarks were defined. A vertical line connecting the mid-point of heel (H) and tip of great toe (G) was defined as the HG line. A transverse line connecting the navicular tuberosity (N) and tuberosity of 5th metatarsal bone (M) was defined as the NM line. The bifurcation points of the 10 MPPD nerves were expressed in X, Y coordinates in relation to these two axis. RESULTS: The bifurcation points were located at approximately 40% (40.0+/-2.4; mean+/-SD) of the HG line from the mid-point of heel (H) and at approximately 37% (36.5+/-3.6) of the NM line from the navicular tuberosity (N). The majority of these points were found to be clustered close to the HG line. CONCLUSION: The data on the MPPD nerve bifurcation points may be useful to localize the appropriate stimulation site that could be used in MPPD nerve conduction studies.

Genetics of Hereditary Peripheral Neuropathies

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.

Ataxic Sensory Neuropathy and Polymyositis in Primary Sjogren's Syndrome

Ataxic sensory neuropathy combined with proximal skeletal myopathy is a rare neurologic manifestation in Sjogren's syndrome. The myopathy may be either a form of polymyositis or an immune-mediated neuropathy with muscle involvement. We report a case of primary Sjogren's syndrome with ataxic sensory neuropathy and proximal skeletal myopathy that was proven to be polymyositis with immunohistochemical staining using a mononoclonal antibody.

Notalgia parestésica / Notalgia paresthetica

La notalgia parestésica es una neuropatía sensorial caracterizada clínicamente por una mancha hiperpigmentada bien circunscrita localizada en la espalda, que afecta las áreas correspondientes a los dermatomos D2 a D6. El prurito es el síntoma más común, aunque algunos pacientes describen otras sensaciones, incluyendo ardor, parestesia, hiperestesia o dolor. Los hallazgos histopatológicos son inespecíficos. Su etiología no ha sido claramente demostrada, pero en algunos casos existe una llamativa correlación con patología de la columna vertebral, incluyendo cambios degenerativos y/o hernias del núcleo pulposo. El diagnóstico diferencial incluye la neurodermitis y la amiloidosis macular. No existe un tratamiento definitivo para la enfermedad. Se han empleado diversas terapias incluyendo capsaicina tópica, bloqueo anestésico para vertebral, oxcarbazepina, gabapentina y toxina botulínica.

Notalgia paresthetica is a sensory neuropathy characterizd clinically by a well-circumscribed hyperpigmented patch located on the back, affecting the areas corresponding to dermatomes D2-D6. Pruritus is its most common symptom, but some patients describe other sensations including burning, paresthesia, hypeesthesia or pain. Histopathological findings are not specific. The etiology of this condition has not be en clearly demonstrated but in some cases there exists a striking correlation with spinal pathology, including degenerative changes or a herniated nucleous pulposus. Differential diagnoses include neurodermitis and maclular amyloidosis There is no definitive treatment for the disease diverse therapies have been employed including topical capsaicin paravertebral local anesthetic block, oxcarbazepine, gabapentir and botulinum toxin type A.