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Some prognostic biomarkers of amyotrophic lateral sclerosis (ALS) have been described; however, they are inadequate for satisfactorily predicting individual patient outcomes. Fasciculation potentials (FPs) on electromyography (EMG) are useful for the early diagnosis of ALS, and complex FPs are associated with shorter survival in ALS. In this study, we investigated the relationship between the proportion of muscles with FPs, biochemical markers, and the prognosis of ALS. 89 Patients with ALS were retrospectively classified into three groups based on the interval from onset to death or tracheostomy (less than 1 year: fast progression; from 1 year to less than 3 years: average progression; 3 years or more: slow progression). We performed statistical analysis of the electrophysiological findings, including the percentage of examined muscles with FPs, and biochemical markers evaluated on admission. Patients with fast ALS progression had a higher percentage of muscles with FPs (93.1% vs. 37.9%, P<0.001) and lower uric acid (UA) levels (male: 4.19 mg/dl vs 5.55 mg/dl, P<0.001; female: 3.71 mg/dl vs 5.41 mg/dl, P<0.001) than patients with slow progression. Survival curves demonstrated a relationship between these factors and the survival time in patients with ALS. Furthermore, UA levels were correlated with the percentage of muscles with FPs. Our electrophysiological findings suggest that ALS presents with multisystem neurological manifestations, and these manifestations differed among the groups classified by disease progression. The percentage of muscles with FPs on EMG and serum UA levels were especially associated with the prognosis of ALS. [ABSTRACT FROM AUTHOR]

Neuromyelitis optica spectrum disorder (NMOSD) has been differentiated from relapsing-remitting multiple sclerosis (RRMS) by clinical, laboratory, and pathological findings, including the presence of the anti-aquaporin 4 antibody. Measurement of evoked potentials (EPs) is often used for the diagnosis of RRMS, although the possibility of applying EPs to the diagnosis of NMOSD has not been investigated in detail. Eighteen patients with NMOSD and 28 patients with RRMS were included in this study. The patients' neurological symptoms and signs were examined and their EPs were recorded. Characteristic findings were absence of visual evoked potentials and absence of motor evoked potentials in the lower extremities in patients with NMOSD, and a delay in these potentials in patients with RRMS. Most patients with NMOSD did not present abnormal subclinical EPs, whereas many patients with RRMS did. None of the patients with NMOSD showed abnormalities in auditory brainstem responses. NMOSD can be differentiated from RRMS by EP data obtained in the early stages of these diseases. [ABSTRACT FROM AUTHOR]

Abstract: We report a family with 16q-ADCA(16q 22.1 linked autosomal dominant cerebellar ataxia) coexisting with SCA8 repeat expansion. The brothers in this family presented with pyramidal signs, tremor, myoclonus and mental retardation in addition to cerebellar symptom in childhood. They showed both C-to-T substitution puratrophin-1 gene and an expanded allele of the SCA8 gene in the brothers and their father. These siblings presented with atypical symptoms and early onset age as16q-ADCA. Although it remains controversial whether the expanded SCA8 allele is associated with cerebellar symptoms, the coexistence of SCA8 repeat expansion with SCA6 was reported previously. Pure or predominant cerebellar symptoms were found in patients with SCA8, SCA6 and 16q-ADCA. In addition, common findings in neuropathology of SCA8, SCA6 and 16q-ADCA have been reported. We suppose that coexistence of SCA8 repeat expansion with 16q-ADCA may be involved in the pathogenesis and severe symptoms in this family. [Copyright &y& Elsevier]

Glial fibrillary acidic protein ( GFAP) mutation has been reported in Alexander disease. We report a patient with the adult form of Alexander disease who shows a novel mutation in GFAP. This case presented with progressive dysarthria, dysphagia and spastic gait on the right side. Brain and spinal cord MRI showed marked atrophy of the medulla oblongata and spinal cord. Abnormal high signal intensities in the ventral medulla oblongata were detected bilaterally. There were no white matter lesions or contrast enhancing lesions. Recently, there have been reports of patients with a juvenile form of Alexander disease presenting with atrophy or signal abnormalities of the medulla or spinal cord. Atrophy of the medulla and spinal cord have specifically been described as suggestive of Alexander disease [1]. Sequence analysis of the GFAP gene of this patient showed a heterozygous c.221T>C mutation, predicting a p.M74T amino acid change. In all patients suspected of Alexander disease on the basis of MRI findings, GFAP analysis is necessary to confirm the diagnosis. [ABSTRACT FROM AUTHOR]

We report a patient with Creutzfeldt-Jakob disease who presented asymmetric myoclonus. Positive-negative myoclonus was seen only in the right extremities in association with periodic synchronous discharges (PSDs) on the electroencephalogram, although pure positive myoclonus was rarely seen in the left extremities, independently in PSDs. The duration of the silent period recorded in the right-hand muscle produced by transcranial magnetic stimulation was much longer than that in the left-hand muscle or that in normal subjects. Brain MRI diffusion-weighted images showed signal hyperintensities in the putamen and cerebral cortex, including the motor cortex, predominantly on the left side. © 2006 Movement Disorder Society [ABSTRACT FROM AUTHOR]

Abstract: We evaluated the role of neurophysiologic examination when the patients with amyotrophic lateral sclerosis (ALS) were first presented to neuromuscular clinic for a definitive opinion. Motor evoked potentials (MEPs), nerve conduction study and needle EMG were examined in 31 patients. The increase of the threshold of MEPs and the central motor conduction time (CMCT) was recognized in 52.9% of the patients with hyperreflexia, 28.6% of them without hyperreflexia and 45.8% of all 31 patients. The decrease of the amplitude of MEPs/M ratio was recognized in 66.7% of patients with hyperreflexia, 58.3% of them without hyperreflexia and 62.5% of all 31 patients. In the first time of examination, 40% of the clinically definite ALS patients coincided with electrophysiological features of definite primary lower motor neuron degeneration of El Escorial revised criteria (1998). At the first presentation to the hospital, many patients with ALS were not considered to fulfill El Escorial revised EMG criteria. Neurophysiologic examination should be made repeatedly in the earlier diagnosis of ALS. [Copyright &y& Elsevier]

This article discusses a case report of a patient with refractory myasthenia gravis (MG) who showed a rapid and excellent response to treatment with eculizumab, a monoclonal antibody that targets the complement pathway. The patient experienced significant improvement in symptoms, including dysarthria and dysphagia, within 8 hours of receiving eculizumab. The treatment allowed the patient to resume regular food intake and return to work within a week. The article suggests that eculizumab may be a feasible option for managing refractory MG and facilitating early reintegration into society and the workplace. Further research is needed to explore the role of eculizumab in MG treatment. [Extracted from the article]

The aim of this study was to report the electrophysiological findings in patients with neuromyelitis optica (NMO) differentiated from multiple sclerosis (MS). We diagnosed 17 patients with NMO based on the clinical symptoms, brain MRI, and aquaporin-4 antibody positivity. Those patients underwent visual evoked potential (VEP), auditory brainstem response (ABR), somatosensory evoked potential (SEP), and motor evoked potential (MEP) analyses. Forty-four point one percent of the patients presented abnormal VEP findings. All patients presented normal ABR findings. Abnomal findings were presented at rates of 8.8% in upper extremity SEP, 21.9% in lower extremity SEP, 13.6% in upper extremity MEP, and 36.4% in lower extremity. There were few abnormal subclinical findings in the electrophysiological findings. We found smaller percentage of abnormal findings in patients with NMO compared to patients with MS. [ABSTRACT FROM AUTHOR]

Alexander disease (AxD) is a rare neurodegenerative disorder. Most patients with AxD have a de novo dominant missense mutation in the glial fibrillary acidic protein (GFAP) gene. Patients with late-onset AxD exhibit a more variable onset and severity than patients with early-onset AxD, suggesting the existence of factors that modify the clinical phenotype of late-onset AxD. A −250-bp C/A single-nucleotide polymorphism (SNP) of the GFAP promoter (rs2070935) in the activator protein-1 binding site is a candidate factor for modification of the clinical phenotype. We analyzed the SNP in 10 patients with late-onset AxD and evaluated the effects of the SNP on the clinical course of late-onset AxD. Three of four cases with the C/C genotype lost the ability to walk in their 30s or 40s, whereas all six cases with the other genotypes retained the ability to walk throughout their 30s. The age of onset in patients with the C/C genotype was significantly earlier than in patients with the other genotypes (P<0.05). A more severe phenotype was observed in the patient in whom the C allele of rs2070935 was in cis with the GFAP mutation compared with the patient in whom the C allele of rs2070935 was in trans with the GFAP mutation. Our investigation revealed the possibility that the C/C genotype at rs2070935 of the GFAP promoter in late-onset AxD was associated with an earlier onset and a more rapid progression of ambulatory disability compared with the other genotypes. [ABSTRACT FROM AUTHOR]