Motor neuron disease includes a heterogeneous group of relentless progressive neurological disorders defined and characterized by the degeneration of motor neurons.Amyotrophic lateral sclerosis is the most common and ...Motor neuron disease includes a heterogeneous group of relentless progressive neurological disorders defined and characterized by the degeneration of motor neurons.Amyotrophic lateral sclerosis is the most common and aggressive form of motor neuron disease with no effective treatment so far.Unfortunately,diagnostic and prognostic biomarkers are lacking in clinical practice.Neurofilaments are fundamental structural components of the axons and neurofilament light chain and phosphorylated neurofilament heavy chain can be measured in both cerebrospinal fluid and serum.Neurofilament light chain and phosphorylated neurofilament heavy chain levels are elevated in amyotrophic lateral sclerosis,reflecting the extensive damage of motor neurons and axons.Hence,neurofilaments are now increasingly recognized as the most promising candidate biomarker in amyotrophic lateral sclerosis.The potential usefulness of neurofilaments regards various aspects,including diagnosis,prognosis,patient stratification in clinical trials and evaluation of treatment response.In this review paper,we review the body of literature about neurofilaments measurement in amyotrophic lateral sclerosis.We also discuss the open issues concerning the use of neurofilaments clinical practice,as no overall guideline exists to date;finally,we address the most recent evidence and future perspectives.展开更多
Background:The coronavirus disease 2019(COVID-19)pandemic,caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),began in late 2019.More recently,there have been sporadic case reports on devel-opment of...Background:The coronavirus disease 2019(COVID-19)pandemic,caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),began in late 2019.More recently,there have been sporadic case reports on devel-opment of Miller-Fisher Syndrome,a rare variant of Guillain-BarréSyndrome in COVID-19 patients.Case report:We reported herein the case of a French young women presenting with ophtalmoplegia,cerebellar ataxia,and universal areflexia following a bariatric surgery(sleeve gastrectomy).A concomitant COVID-19 diagnosis was retained based on microbiological testing.The patient was successfully treated after high-dose intravenous thiamine,but areflexia persisted.Underlying COVID-19 related Miller-Fisher Syndrome was established on physical examination and confirmed by pathologic neurophysiological findings and elevated level of phosphorylated neurofilament heavy chain protein in cerebrospinal fluid analysis.Conclusions:Guillain-BarréSyndrome and its variants after SARS-CoV-2 infection are extremely rare.The mea-surement of phosphorylated neurofilament heavy chain protein should be considered as an easy tool to detect an early affection of the peripheral nervous system.展开更多
文摘Motor neuron disease includes a heterogeneous group of relentless progressive neurological disorders defined and characterized by the degeneration of motor neurons.Amyotrophic lateral sclerosis is the most common and aggressive form of motor neuron disease with no effective treatment so far.Unfortunately,diagnostic and prognostic biomarkers are lacking in clinical practice.Neurofilaments are fundamental structural components of the axons and neurofilament light chain and phosphorylated neurofilament heavy chain can be measured in both cerebrospinal fluid and serum.Neurofilament light chain and phosphorylated neurofilament heavy chain levels are elevated in amyotrophic lateral sclerosis,reflecting the extensive damage of motor neurons and axons.Hence,neurofilaments are now increasingly recognized as the most promising candidate biomarker in amyotrophic lateral sclerosis.The potential usefulness of neurofilaments regards various aspects,including diagnosis,prognosis,patient stratification in clinical trials and evaluation of treatment response.In this review paper,we review the body of literature about neurofilaments measurement in amyotrophic lateral sclerosis.We also discuss the open issues concerning the use of neurofilaments clinical practice,as no overall guideline exists to date;finally,we address the most recent evidence and future perspectives.
文摘Background:The coronavirus disease 2019(COVID-19)pandemic,caused by severe acute respiratory syndrome coronavirus 2(SARS-CoV-2),began in late 2019.More recently,there have been sporadic case reports on devel-opment of Miller-Fisher Syndrome,a rare variant of Guillain-BarréSyndrome in COVID-19 patients.Case report:We reported herein the case of a French young women presenting with ophtalmoplegia,cerebellar ataxia,and universal areflexia following a bariatric surgery(sleeve gastrectomy).A concomitant COVID-19 diagnosis was retained based on microbiological testing.The patient was successfully treated after high-dose intravenous thiamine,but areflexia persisted.Underlying COVID-19 related Miller-Fisher Syndrome was established on physical examination and confirmed by pathologic neurophysiological findings and elevated level of phosphorylated neurofilament heavy chain protein in cerebrospinal fluid analysis.Conclusions:Guillain-BarréSyndrome and its variants after SARS-CoV-2 infection are extremely rare.The mea-surement of phosphorylated neurofilament heavy chain protein should be considered as an easy tool to detect an early affection of the peripheral nervous system.