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admin October 11, 2019

Abstract

Objective

JC virus (JCV) infection is a lytic infection of oligodendrocytes in progressive multifocal leukoencephalopathy; less common forms of central nervous system manifestations associated with JCV infection include granule cell neuronopathy, encephalopathy, and meningitis. Presented is the first case of fatal JCV encephalopathy after immunosuppressive therapy that included ruxolitinib.… Read More...

admin October 4, 2019

Fatty acid hydroxylase-associated neurodegeneration (FAHN), a progressive disorder once classified as hereditary spastic paraplegia (SPG35; 612319), has recently linked to neurodegeneration with brain iron accumulation and leukodystrophies. Two boys (6.5 and 7 years) from unrelated consanguineous families were detected to have homozygous mutations in FA2Hgene through whole exome sequencing.… Read More...

admin October 3, 2019

PURA is a highly conserved protein controlling both replication and transcription process. Damaging dominant mutations can result in PURA syndrome manifesting with learning disability, impaired walking, dysphagia, apnea as well as hypotonia and feeding difficulties in the infancy. We describe here the expansion of the genotype-phenotype correlation of PURA-syndrome in terms of patient with predominantly LGMD phenotype.… Read More...

admin October 3, 2019

Painful subacute symmetrical proximal muscle weakness and persistent elevated creatine kinase (CK) levels is typical of Necrotizing autoimmune myopathy (NAM) accompanied by abundant myofiber necrosis, degeneration, and regeneration with minimal or no inflammation on muscle biopsy. However, chronic forms mimicking muscular dystrophy and rhabdomyolysis have been reported.… Read More...

admin October 3, 2019

Neuromuscular disorders are both clinically and genetically a very heterogeneous group of disorders. Accordingly, the ability to interrogate a broad array of genetic alterations, by next generation sequencing, has provided an accurate molecular diagnosis for a larger group of patients. We will present the results of three years of panel based sequencing including 400 patients.… Read More...

admin October 2, 2019

Some pathological features such as rods, polyglucosan bodies or COX-negative fibers that can be found in muscle and nerve biopsies are generally linked to specific disorders. The significance of such findings in elderly people is unknown. Here we present unexpected pathological findings in muscle and nerve biopsies of an 81-year-old man who suffered from lower-limb pain, paresthesia and deltoid atrophy, for which a polyneuropathy was suspected.… Read More...

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