Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 79
Filtrar
Más filtros

Tipo del documento
País de afiliación
Intervalo de año de publicación
1.
J Med Genet ; 61(5): 430-434, 2024 Apr 19.
Artículo en Inglés | MEDLINE | ID: mdl-38050071

RESUMEN

BACKGROUND: Cases of RNF216-related disorder have been reported sporadically. However, the clinical and genetic spectrum of this disorder has not been fully studied. METHODS: We identified an individual with a novel causative RNF216 variant in our institution and reviewed all individuals with causative RNF216 variants in previous reports. The clinical and genetic features of all the described individuals were analysed and summarised. RESULTS: Twenty-four individuals from 17 families with causative RNF216 variants were identified. The mean age at the onset of neurological symptoms was 29.2 years (range 18-49 years). Ataxia (57%) was the most frequent initial symptoms in individuals under 30 years old, while chorea (63%) was the most frequent initial symptom in individuals over 30 years old. Over 90% of individuals presented with cognitive impairment and hypogonadotropic hypogonadism throughout the disease. White matter lesions (96%) and cerebellar atrophy (92%) were the most common imaging findings. Twenty pathogenic variants in RNF216 were detected. The variants in 12 (71%) families were inherited in a monogenic recessive pattern, whereas the variants in 5 (29%) were inherited in a digenic pattern by acting with variants in other genes. The majority of the RNF216 variants (85%) resulted in amino acid changes or the truncation of the 'RING between RING' (RBR) domain or C-terminal extension. CONCLUSION: RNF216-related disorder is an inherited neuroendocrine disease characterised by cerebellar ataxia, chorea, cognitive impairment and hypogonadotropic hypogonadism. Most causative variants in patients with RNF216-related disorder influence the RBR domain or C-terminal extension of RNF216.

2.
Brain ; 146(6): 2364-2376, 2023 06 01.
Artículo en Inglés | MEDLINE | ID: mdl-36380532

RESUMEN

Genetic leukoencephalopathies (gLEs) are a highly heterogeneous group of rare genetic disorders. The spectrum of gLEs varies among patients of different ages. Distinct from the relatively more abundant studies of gLEs in children, only a few studies that explore the spectrum of adult gLEs have been published, and it should be noted that the majority of these excluded certain gLEs. Thus, to date, no large study has been designed and conducted to characterize the genetic and phenotypic spectra of gLEs in adult patients. We recruited a consecutive series of 309 adult patients clinically suspected of gLEs from Beijing Tiantan Hospital between January 2014 and December 2021. Whole-exome sequencing, mitochondrial DNA sequencing and repeat analysis of NOTCH2NLC, FMR1, DMPK and ZNF9 were performed for patients. We describe the genetic and phenotypic spectra of the set of patients with a genetically confirmed diagnosis and summarize their clinical and radiological characteristics. A total of 201 patients (65%) were genetically diagnosed, while 108 patients (35%) remained undiagnosed. The most frequent diseases were leukoencephalopathies related to NOTCH3 (25%), NOTCH2NLC (19%), ABCD1 (9%), CSF1R (7%) and HTRA1 (5%). Based on a previously proposed pathological classification, the gLEs in our cohort were divided into leukovasculopathies (35%), leuko-axonopathies (31%), myelin disorders (21%), microgliopathies (7%) and astrocytopathies (6%). Patients with NOTCH3 mutations accounted for 70% of the leukovasculopathies, followed by HTRA1 (13%) and COL4A1/2 (9%). The leuko-axonopathies contained the richest variety of associated genes, of which NOTCH2NLC comprised 62%. Among myelin disorders, demyelinating leukoencephalopathies (61%)-mainly adrenoleukodystrophy and Krabbe disease-accounted for the majority, while hypomyelinating leukoencephalopathies (2%) were rare. CSF1R was the only mutated gene detected in microgliopathy patients. Leukoencephalopathy with vanishing white matter disease due to mutations in EIF2B2-5 accounted for half of the astrocytopathies. We characterized the genetic and phenotypic spectra of adult gLEs in a large Chinese cohort. The most frequently mutated genes were NOTCH3, NOTCH2NLC, ABCD1, CSF1R and HTRA1.


Asunto(s)
Leucoencefalopatías , Niño , Humanos , Adulto , Leucoencefalopatías/genética , Leucoencefalopatías/patología , Mutación/genética , Vaina de Mielina/patología , Análisis de Secuencia de ADN , Receptor Notch3/genética , Serina Peptidasa A1 que Requiere Temperaturas Altas/genética , Proteína de la Discapacidad Intelectual del Síndrome del Cromosoma X Frágil
3.
Neuroradiology ; 2024 Jun 13.
Artículo en Inglés | MEDLINE | ID: mdl-38866958

RESUMEN

BACKGROUND AND PURPOSE: Neuronal intranuclear inclusion disease (NIID) is a rare complex neurodegenerative disorder presents with various radiological features. The study aimed to investigate the structural abnormalities in NIID using multi-shell diffusion MR. MATERIALS AND METHODS: Twenty-eight patients with adult-onset NIID and 32 healthy controls were included. Volumetric and diffusion MRI measures, including volume, fractional anisotropy (FA), mean diffusivity (MD), intracellular volume fraction (ICVF), orientation dispersion index (ODI), and isotropic volume fraction (ISOVF) of six brain structures, including cortex, subcortical GM, cerebral WM, cerebellar GM and WM, and brainstem, were obtained and compared between NIID and healthy controls. Associations between MRI measures and clinical variables were investigated. RESULTS: Brain lesions of NIID included corticomedullary junction lesions on DWI, confluent leukoencephalopathy, lesions on callosum, cerebellar middle peduncle, cerebellar paravermal area and brainstem, and brain atrophy. Compared to healthy controls, NIID showed extensive volume loss of all the six brain regions (all p < 0.001); lower FA in cerebral WM (p < 0.001); higher MD in all WM regions; lower ODI in cortex (p < 0.001); higher ODI in subcortical GM (p < 0.001) and brainstem (p = 0.016); lower ICVF in brainstem (p = 0.001), and cerebral WM (p < 0.001); higher ISOVF in all the brain regions (p < 0.001). Higher MD of cerebellar WM was associated with worse cognitive level as evaluated by MoCA scores (p = 0.011). CONCLUSIONS: NIID patients demonstrated widespread brain atrophy but heterogeneous diffusion alterations. Cerebellar WM integrity impairment was correlated with the cognitive decline. The findings of the current study offer a sophisticated picture of brain structural alterations in NIID.

4.
Neurol Sci ; 45(6): 2825-2833, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38177969

RESUMEN

OBJECTIVE: This is a retrospective analysis of clinical data from individuals diagnosed with neurosyphilis, aiming to enhance healthcare professionals' understanding of the disease and expedite early diagnosis and intervention. METHODS: A retrospective analysis was conducted on the clinical records of 50 patients who received a diagnosis of symptomatic neurosyphilis and were admitted to the Neurology Department during the period spanning January 2012 to December 2022. RESULTS: Clinical manifestations encompassed diverse phenotypes, with syphilitic meningitis accounting for 16% of cases, characterized by symptoms such as headache, blepharoptosis, paralysis, blurred vision, and tinnitus. Meningovascular syphilis presented in 36% of cases, exhibiting episodic loss of consciousness, limb numbness, and limb convulsion. Paralytic dementia manifested in 36% of cases, featuring symptoms such as memory loss, sluggish response, and slow movement. Tabes dorsalis was observed in 12% of cases, presenting with weakness, numbness, and staggering. Routine cerebrospinal fluid (CSF) analysis indicated abnormal white blood cell counts in 60% of patients, while biochemical testing revealed abnormal protein content in 52% of patients. Notably, statistically significant differences were observed between patients with interstitial and parenchymatous neurosyphilis (Z = 2.023, P = 0.044) in terms of CSF protein content. Electroencephalogram (EEG) results were abnormal in six patients, and imaging studies unveiled diverse findings in 46 patients. CONCLUSION: The study highlights the importance of neurological and/or ocular symptoms in diagnosing symptomatic neurosyphilis. Individuals with hypomnesia should be closely monitored for potential neurosyphilis. Integrating clinical manifestations, laboratory tests, EEG, and imaging can reduce misdiagnosis. This comprehensive approach shows promise in improving early identification and management of neurosyphilis.


Asunto(s)
Diagnóstico Precoz , Neurosífilis , Humanos , Neurosífilis/diagnóstico , Neurosífilis/complicaciones , Estudios Retrospectivos , Masculino , Femenino , Persona de Mediana Edad , Adulto , Anciano , Tabes Dorsal/diagnóstico , Tabes Dorsal/complicaciones
5.
Langenbecks Arch Surg ; 409(1): 169, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38822914

RESUMEN

INTRODUCTION: Tracheoesophageal fistula (TEF) especially malignant TEF (mTEF) is an uncommon yet critical medical condition necessitating immediate intervention. This life-threatening condition frequently manifests in critically ill patients who are dependent on prolonged mechanical ventilation and are unsuitable candidates for thoracotomy due to their compromised health status. The Management of these mTEF patients remain a significant challenge.This study aimed to evaluate the safety and efficacy of using a cardiac septal occluder for the closure of mTEF. METHODS: 8 patients with mTEF underwent closure surgery using atrial/ventricular septal defect (ASD/VSD) septal occluders at the Respiratory Department of HuBei Yichang Central People's Hospital from 2021 to 2023. The procedure involved percutaneous placement of the occluder through the fistula to achieve closure. RESULTS: The placement of the cardiac septal occluder was successfully achieved with ease and efficiency in all patients. The study demonstrated that the use of cardiac septal occluder therapy in patients with mTEF can alleviate symptoms, improve quality of life, and enhance survival rates, with no significant complications observed. Furthermore, the study provided comprehensive details on surgical indications, preoperative evaluation and diagnosis, selection of occluder, methods of occlusion, and postoperative care. CONCLUSIONS: The application of cardiac septal occluder in the treatment of mTEF is a safe and effective palliative treatment. This approach may be particularly beneficial for patients with a high risk of complications and mortality associated with traditional surgical interventions.


Asunto(s)
Cuidados Paliativos , Dispositivo Oclusor Septal , Fístula Traqueoesofágica , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Procedimientos Quirúrgicos Mínimamente Invasivos/métodos , Cuidados Paliativos/métodos , Calidad de Vida , Estudios Retrospectivos , Fístula Traqueoesofágica/cirugía , Fístula Traqueoesofágica/etiología , Resultado del Tratamiento
6.
J Neurovirol ; 29(6): 692-698, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-37898569

RESUMEN

The aim of this study is to analyze the clinical characteristics and outcomes of Chinese patients with progressive multifocal leukoencephalopathy (PML) who were treated with programmed cell death protein 1 (PD1) blockade therapies. We retrospectively analyzed patients who were admitted to our hospital between October 1, 2020, and October 1, 2022, diagnosed with PML and treated with PD1 blockade therapies. Four patients with PML who were treated with PD1 blockade therapies were identified. All patients were male, and their ages ranged from 19 to 54 years old. One patient (Case 2) exhibited mild pleocytosis, while three patients (Cases 2-4) had markedly reduced T lymphocyte cell counts prior to treatment. The time interval between symptom onset and treatment initiation ranged from six to 54 weeks. All patients received pembrolizumab treatment, with a total of two to four doses administered. Three patients who responded to pembrolizumab treatment showed clinical improvement starting around 8 weeks after the initiation of therapy. Although one patient did not show clinical improvement, they ultimately survived until the last follow-up. None of the patients in this study exhibited immune-related adverse events or immune reconstitution inflammatory syndrome. PD1 blockade appears to be a promising novel therapeutic option for PML; additional prospective studies are necessary to confirm its efficacy.


Asunto(s)
Virus JC , Leucoencefalopatía Multifocal Progresiva , Humanos , Masculino , Adulto Joven , Adulto , Persona de Mediana Edad , Femenino , Leucoencefalopatía Multifocal Progresiva/tratamiento farmacológico , Estudios Retrospectivos , Estudios Prospectivos , Anticuerpos Monoclonales Humanizados/uso terapéutico
7.
Neurol Sci ; 44(5): 1769-1772, 2023 May.
Artículo en Inglés | MEDLINE | ID: mdl-36809423

RESUMEN

The GGC repeat expansions in the NOTCH2NLC gene are associated with multiple neurodegenerative disorders. Herein, we report the clinical phenotype in a family with biallelic GGC expansions in NOTCH2NLC. Autonomic dysfunction was a prominent clinical manifestation in three genetically confirmed patients without dementia, parkinsonism, and cerebellar ataxia for > 12 years. A 7-T brain magnetic resonance imaging in two patients revealed a change in the small cerebral veins. The biallelic GGC repeat expansions may not modify the disease progression in neuronal intranuclear inclusion disease. Autonomic dysfunction-dominant may expand the clinical phenotype of NOTCH2NLC.


Asunto(s)
Enfermedades del Sistema Nervioso Autónomo , Proteínas del Tejido Nervioso , Enfermedades Neurodegenerativas , Expansión de Repetición de Trinucleótido , Humanos , Encéfalo/diagnóstico por imagen , Encéfalo/patología , Pueblos del Este de Asia , Cuerpos de Inclusión Intranucleares/patología , Enfermedades Neurodegenerativas/genética , Fenotipo , Proteínas del Tejido Nervioso/genética , Péptidos y Proteínas de Señalización Intercelular/genética
8.
Neurol Sci ; 43(8): 4961-4977, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-35389136

RESUMEN

BACKGROUND: Vanishing white matter (VWM) is one of the most prevalent leukoencephalopathies and is caused by recessive mutations in gene eIF2B1-5. The onset may vary from an antenatal disorder that is rapidly fatal to an adult-onset disorder with chronic progressive deterioration. METHODS: Based on a comprehensive study of 14 juvenile/adult patients diagnosed in our department as well as a review of 71 previously reported cases of genetically confirmed juvenile/adult-onset VWM since 2001, we attempted to delineate the clinical symptoms, disease evolution, episodic aggravation, associated symptoms, MRI findings and genotypic characteristics of adult VWM. RESULTS: The onset age of neuropsychiatric symptoms was 23.4 ± 10.6 years, and the mean follow-up time was 8.1 ± 4.8 years. Major clinical symptoms included headache, epilepsy, cognitive decline, cerebellar ataxia, and urinary disturbances. Episodic aggravation was found in 42.9% of the patients in our series. Molecular studies revealed fourteen novel missense mutations. Diffuse abnormal signals characterized by T1-weighted hypointensity and T2-weighted hyperintensity were observed in the supratentorial white matter. CONCLUSIONS: The symmetrical leukoencephalopathy must be considered in patients of any age with premature ovarian failure or optic neuropathy. The VWM disease spectrum consists of characteristic imaging findings in combination with extremely wide variability in VWM patients.


Asunto(s)
Leucoencefalopatías , Sustancia Blanca , Adolescente , Adulto , Niño , China , Factor 2B Eucariótico de Iniciación/genética , Femenino , Humanos , Leucoencefalopatías/diagnóstico por imagen , Leucoencefalopatías/genética , Imagen por Resonancia Magnética , Mutación/genética , Embarazo , Sustancia Blanca/diagnóstico por imagen , Adulto Joven
9.
Eur Neurol ; 84(4): 237-245, 2021.
Artículo en Inglés | MEDLINE | ID: mdl-34004599

RESUMEN

BACKGROUND AND PURPOSE: Studies have shown characteristics of genotypes and phenotypes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). This study aimed to describe the clinical and genetic characteristics of and correlations between the genotypes and phenotypes observed in CADASIL in China on the basis of exon classification. METHODS: Consecutive Chinese patients with CADASIL were evaluated. The detailed clinical and genetic features of CADASIL patients were collected. Genotypic and phenotypic characteristics were compared among 3 CADASIL groups: group 1 included patients with NOTCH3 mutations in exons 3-4, group 2 included those with NOTCH3 mutations in exon 11, and group 3 included those with NOTCH3 mutations in other exons. RESULTS: A total of 46 patients with CADASIL were evaluated. A comparison of 3 groups with mutations in different NOTCH3 exons revealed that individuals with exon 11 mutations were diagnosed at the oldest age, had the lowest modified Rankin Scale (mRS) scores, and were most likely to have basal ganglia (BG) enlarged perivascular spaces (EPVS) > 20 and atrophy. There were no significant clinical or neuroimaging differences between patients with mutations in exons 3-4 and those with mutations in other exons. CONCLUSIONS: Clinical and neuroimaging features are different among Chinese patients with mutations in exons 3-4, exon 11, or other exons. Exon 11 showed characterized phenotype (the oldest age at diagnosis, the lowest mRS scores, and were most likely to have BG EPVS > 20 and atrophy), there were no significant differences between exons 3-4 and other exons.


Asunto(s)
CADASIL , CADASIL/genética , Exones , Genotipo , Humanos , Imagen por Resonancia Magnética , Mutación , Fenotipo , Receptor Notch3/genética , Receptores Notch/genética
10.
BMC Neurol ; 20(1): 125, 2020 Apr 08.
Artículo en Inglés | MEDLINE | ID: mdl-32268889

RESUMEN

BACKGROUND: Neuronal intranuclear inclusion disease (NIID) is a rare neurodegenerative condition characterized by the loss of neurons and the presence of eosinophilic nuclear inclusions in the central and peripheral nervous system, skin and visceral organs. In this paper, we present a case of NIID with recurrent encephalitic attacks that remained stable and nonprogressive for seven years; no such case has previously been reported. CASE PRESENTATION: A 63-year-old female was hospitalized due to light-headedness, vomiting, unstable gait and cognitive impairment. Seven years prior, she had experienced an episode of light-headedness, central facial paralysis, unstable gait, aphasia, nausea, vomiting and loss of consciousness. She regained consciousness within 12 h, and her other symptoms were completely resolved within one week. During the present hospitalization, a brain magnetic resonance imaging (MRI) examination detected high signal intensity on diffusion-weighted imaging (DWI) of the bilateral frontal grey matter-white matter junction. We reviewed the patient's previous MRI results and found that she had also had high signal intensity on DWI of the bilateral frontal grey matter-white matter junction seven years prior. In the intervening seven years, the high signal intensity in the frontal lobes had spread along the grey matter-white matter junction, but the deep white matter remained unaffected. Skin biopsy was performed, and intranuclear inclusions were found in adipocytes, fibroblasts and sweat gland cells. GGC repeat expansions in the NOTCH2NLC (Notch 2 N-terminal like C) gene confirmed the diagnosis of NIID. She received supportive treatment such as nutrition support therapy and vitamin B and C supplementation, as well as symptomatic treatment during hospitalization. The patient's symptoms were completely relieved within one week. CONCLUSION: This is a detailed report of a case of NIID with multiple reversible encephalitic attacks, diagnosed by clinical symptoms, intranuclear inclusions, characteristic DWI signals, and genetic tests.


Asunto(s)
Encefalitis/patología , Enfermedades Neurodegenerativas/diagnóstico , Biopsia , Disfunción Cognitiva/patología , Imagen de Difusión por Resonancia Magnética , Femenino , Humanos , Cuerpos de Inclusión Intranucleares , Imagen por Resonancia Magnética , Persona de Mediana Edad , Piel/patología
12.
Neurol Sci ; 40(4): 905, 2019 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-30806862

RESUMEN

In the original article, Zaiqiang Zhang was affiliated to Department of Neurology, Beijing Hospital, National Center of Gerontology, Beijing, China. The corrected affiliation should be: Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.

13.
J Vasc Res ; 55(6): 365-377, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30650406

RESUMEN

BACKGROUND: High-mobility group box protein 1 (HMGB1) is known to have proinflammatory properties; however, the mechanisms by which HMGB1 influences immune responses during atherosclerosis (AS) development are not well understood. Thus, this study investigated the relationship between HMGB1 and vascular inflammation in Apoe-/- mice and whether glycyrrhizin (GLY), a small inhibitor of HMGB1, could have atheroprotective effects in AS. METHODS: Apoe-/- mice on a high-fat diet were treated with GLY (50 mg/kg) or vehicle by gavage once daily for 12 weeks, respectively. RESULTS: The GLY group exhibited significantly decreased serum lipid levels, atherosclerotic plaque deposition, and serum HMGB1 levels, as well as an increased Treg/Th17 ratio. The GLY group displayed increased interleukin-10 (IL-10) and IL-2 expression and decreased IL-17A and IL-6 expression. Furthermore, the GA treatment significantly reduced STAT3 phosphorylation in Th17 cells and increased STAT5 phosphorylation in Treg cells. CONCLUSIONS: Our findings indicate that the attenuation of atherosclerotic lesions in Apoe-/- mice by GLY might be associated with the amelioration of lipid metabolism abnormalities, inhibition of HMGB1 expression, and alterations in the Treg/Th17 ratio.


Asunto(s)
Apolipoproteínas E/deficiencia , Ácido Glicirrínico/farmacología , Proteína HMGB1/antagonistas & inhibidores , Metabolismo de los Lípidos/efectos de los fármacos , Vasculitis/prevención & control , Animales , Apolipoproteínas E/genética , Apolipoproteínas E/fisiología , Aterosclerosis/prevención & control , Expresión Génica/efectos de los fármacos , Proteína HMGB1/genética , Proteína HMGB1/fisiología , Lípidos/sangre , Recuento de Linfocitos , Masculino , Ratones , Ratones Endogámicos C57BL , Ratones Noqueados , Fosforilación , Placa Aterosclerótica/prevención & control , Factor de Transcripción STAT3/metabolismo , Factor de Transcripción STAT5/metabolismo , Linfocitos T Reguladores/efectos de los fármacos , Linfocitos T Reguladores/fisiología , Células Th17/fisiología
14.
Acta Cardiol Sin ; 34(5): 399-408, 2018 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-30271090

RESUMEN

BACKGROUND: Atherosclerosis (AS) is defined as chronic inflammation of the vessel wall. The major objective of the this study was to explore the mechanism of Treg/Th17 imbalance and the role of high mobility group box-1 protein (HMGB1) on the balance in AS. METHODS: We detected the apoptotic ratios of Treg and Th17 cells in peripheral blood mononuclear cells (PBMCs) from subjects with AS and normal coronary arteries (NCA) by flow cytometry. The effects of recombinant HMGB1 (rHMGB1) on the proportion, apoptosis and differentiation of Treg and Th17 cells were analyzed using flow cytometry, qRT-PCR and ELISA. RESULTS: The frequencies of apoptotic Treg cells in the PBMCs from the subjects with AS were significantly higher than in those with NCA (p < 0.01). Stimulation of rHMGB1 obviously increased the level of Th17 cells and acid- related orphan receptor C (RORC) mRNA, and markedly decreased Treg cell frequency and the mRNA expression of factor forkhead family protein 3 (Foxp3) in the PBMCs. rHMGB1 played an obvious role in elevating Treg cell apoptosis ratio (p < 0.01). rHMGB1 treatment significantly decreased Treg cell ratio and IL-10 level, and increased Th17 cell ratio and IL-17A level induced from naïve CD4+ T cells. CONCLUSIONS: HMGB1 may modulate Treg/Th17 balance in patients with AS through inducing Treg cell apoptosis and promoting cell differentiation of Th17.

15.
Muscle Nerve ; 54(6): 1093-1096, 2016 12.
Artículo en Inglés | MEDLINE | ID: mdl-27367360

RESUMEN

INTRODUCTION: We sought to determine which muscles to choose for better assessment of the craniobulbar region in establishing the diagnosis of amyotrophic lateral sclerosis (ALS). METHODS: We studied the frontalis muscle in 83 controls and compared it with the tongue, sternocleidomastoid (SCM), and trapezius muscles in 105 definite or probable ALS patients (54 bulbar, 51 nonbulbar). RESULTS: More patients achieved complete relaxation of the frontalis muscle than the tongue or SCM. Motor unit potentials were of longer duration and higher amplitude in ALS patients than in controls (P < 0.05). The frontalis had the same frequency of spontaneous potentials as the tongue, SCM, and trapezius muscles in bulbar ALS patients, but fewer than in the trapezius in nonbulbar patients. CONCLUSIONS: Examining the frontalis provides useful information in establishing the diagnosis of ALS by identifying clinically evident or subclinical abnormalities in the craniobulbar region. Muscle Nerve 54: 1093-1096, 2016.


Asunto(s)
Esclerosis Amiotrófica Lateral/diagnóstico , Electromiografía , Potenciales Evocados Motores/fisiología , Músculos Faciales/fisiopatología , Adulto , Anciano , Esclerosis Amiotrófica Lateral/patología , Distribución de Chi-Cuadrado , Femenino , Humanos , Masculino , Persona de Mediana Edad , Músculos del Cuello/fisiopatología , Agujas , Músculos Superficiales de la Espalda/fisiopatología , Lengua/inervación , Adulto Joven
16.
BMC Neurol ; 15: 117, 2015 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-26208971

RESUMEN

BACKGROUND: L-2-hydroxyglutaric aciduria is a rare autosomal recessive encephalopathy caused by mutations in the L-2-hydroxyglutarate dehydrogenase gene. We describe some novel clinical and molecular characteristics found in a boy with L-2-hydroxyglutaric aciduria. CASE PRESENTATION: We report an 8-year-old Chinese boy, who had characteristic developmental delay, ataxia and acrocephaly as the main symptoms. He also complained of paroxysmal headache and palpitation. Brain image revealed a symmetrical, extensive subcortical white matter lesion. Urine test for organic acids showed a significantly increased level of 2-hydroxyglutaric acid (106.74 mmol/mol cre, normal range 0.6 ~ 5.9 mmol/mol cre), leading to the diagnosis of L-2-hydroxyglutaric aciduria. Genetic testing uncovered two heterozygous missense mutations in L-2-hydroxyglutarate dehydrogenase gene: c.169G > A in exon 2 and c.542G > T in exon 5, not hitherto been described. CONCLUSION: Novel gene mutation and associated clinical symptoms can contribute for the understanding and identification of this rare disease. Possible genotype-phenotype correlation waits for further study.


Asunto(s)
Oxidorreductasas de Alcohol/genética , Pueblo Asiatico/genética , Encefalopatías Metabólicas Innatas/genética , Encéfalo/patología , Mutación Missense , Encefalopatías Metabólicas Innatas/sangre , Encefalopatías Metabólicas Innatas/patología , Encefalopatías Metabólicas Innatas/fisiopatología , Niño , Pruebas Genéticas , Genotipo , Glutaratos/sangre , Heterocigoto , Humanos , Imagen por Resonancia Magnética/métodos , Masculino , Neuroimagen , Fenotipo
17.
Neurourol Urodyn ; 34(7): 669-74, 2015 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-25042298

RESUMEN

AIMS: Abnormalities of external anal sphincter electromyography (EAS-EMG) characterize multiple system atrophy (MSA) and focal cauda equina or conus medullaris lesions. This study is designed to determine whether and how diabetic polyneuropathy (DPN) affects EAS as compared to the abnormalities seen in MSA. METHODS: We conducted multi-motor unit potential (MUP) analysis of EAS in 22 healthy controls, 32 diabetes mellitus (DM) patients without neuropathy, 38 DPN patients, and 68 MSA patients. RESULTS: DPN patients had a significant (P < 0.01) increase in MUP mean duration, mean amplitude, percentage of long duration MUPs, and satellite rate, but to a lesser extent than MSA. Mean duration and satellite rate showed the least overlap among different groups in individual value distributions. CONCLUSIONS: Compared with MSA, DPN affects EAS to a lesser degree as judged by neurogenic MUP abnormalities in EMG. Mean duration and satellite rate may serve as the most discriminating aspects in MUP analysis of EAS.


Asunto(s)
Canal Anal/inervación , Neuropatías Diabéticas/diagnóstico , Electromiografía , Atrofia de Múltiples Sistemas/diagnóstico , Nervio Pudendo/fisiopatología , Adulto , Anciano , Canal Anal/patología , Atrofia , Estudios de Casos y Controles , Neuropatías Diabéticas/fisiopatología , Potenciales Evocados Motores , Femenino , Humanos , Masculino , Persona de Mediana Edad , Atrofia de Múltiples Sistemas/fisiopatología , Valor Predictivo de las Pruebas , Factores de Tiempo
18.
Zhonghua Yi Xue Za Zhi ; 95(4): 283-5, 2015 Jan 27.
Artículo en Zh | MEDLINE | ID: mdl-25877245

RESUMEN

OBJECTIVE: To explore the clinicoelectrophysiological characteristics of paraproteinemic neuropathy (PPN). METHODS: Retrospective analyses were performed for the clinical data, including clinical characteristics, laboratory and neural electrophysiological examinations, of hospitalized patients with definitively diagnosed PPN from 2008 to 2012. Their objective parameters were compared between different sub-groups. RESULTS: There were 12 males and 8 females with an average age of 52 years. The average clinical course was 14 (2-36) months. The types were IgM monoclonal gammopathy (MG) (n = 2, 10%), IgG MG (n = 10, 50%), IgA MG (n = 7, 35%) and λ light chain MG (n = 1, 5%). This cohort had predominant sensory and axonal polyneuropathy with distal involvement. And the subtype of IgA and IgG manifested predominant sensory and axonal polyneuropathy. CONCLUSION: The PPN patients have predominant sensory, axonal and distal symmetric polyneuropathy with clinical heterogeneities. PPN must be suspected even if sensory impairment and demyelination are not the dominant features. For patients with peripheral neuropathy, typing of monoclonal immunoglobulins should be routinely performed.


Asunto(s)
Fenómenos Electrofisiológicos , Paraproteinemias , Nervios Periféricos , Axones , Femenino , Humanos , Inmunoglobulina A , Inmunoglobulina G , Inmunoglobulina M , Masculino , Persona de Mediana Edad , Polineuropatías , Estudios Retrospectivos
20.
Muscle Nerve ; 49(6): 804-8, 2014 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-24259350

RESUMEN

INTRODUCTION: To evaluate the sensitivity of electrophysiologic assessments, we compared F-waves and motor and sensory nerve conduction studies (MNCS and SNCS) in patients with diabetes mellitus (DM). METHODS: We tested median, ulnar, tibial, and fibular nerves in 132 DM patients divided into those with and without clinical evidence of polyneuropathy. RESULTS: Of 64 asymptomatic patients, 2 (3%) had MNCS or SNCS abnormalities, both of whom had F-wave changes, whereas 21 (33%) had only delayed F-waves, for a combined yield of 23 (36%). The corresponding values for 68 symptomatic patients consisted of 43 (63%), 14 (21%), and 57 (84%). In both groups, F-wave latency had a higher (P<0.05) frequency of abnormality than MNCS in all nerves. F-wave study also surpassed SNCS in lower limb nerves. CONCLUSIONS: F-waves of the tibial and fibular nerves are the most sensitive measure to detect subclinical or overt diabetic polyneuropathy. Muscle Nerve 49: 804-808, 2014.


Asunto(s)
Diabetes Mellitus Tipo 2/fisiopatología , Neuropatías Diabéticas/fisiopatología , Electrofisiología/métodos , Conducción Nerviosa/fisiología , Tiempo de Reacción/fisiología , Adulto , Neuropatías Diabéticas/diagnóstico , Femenino , Humanos , Masculino , Nervio Mediano/fisiopatología , Persona de Mediana Edad , Nervio Peroneo/fisiopatología , Sensibilidad y Especificidad , Nervio Tibial/fisiopatología , Nervio Cubital/fisiopatología
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA