journal
https://read.qxmd.com/read/32773449/the-constantly-evolving-spectrum-of-phenotypes-in-titinopathies-will-it-ever-stop
#21
Bjarne Udd
PURPOSE OF REVIEW: The last few years have confirmed previous assumptions of an enormous impact of the titin gene (TTN) on the occurrence of muscle disease, cardiomyopathy, or both together. The reason for this rather late understanding of its importance is because of the huge size which prevented sequencing of the whole gene by the previous Sanger technique in the individual cases. An update of the advances in diagnosing titinopathies is the main focus of this review. RECENT FINDINGS: High throughput methods are now widely available for TTN sequencing and a corresponding explosion of different types of identified titinopathies is observed and published in the literature, although final confirmation is lacking in many cases with recessive missense variants...
October 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32773448/chronic-axonal-idiopathic-polyneuropathy-is-it-really-benign
#22
Kristin Samuelsson, Rayomand Press
PURPOSE OF REVIEW: Chronic idiopathic axonal polyneuropathy (CIAP), a common neurological condition, is considered to be a benign neurological condition with a small risk of disability. However, many studies have shown a reduced quality of life and a nonnegligible affection of daily activities in patients with CIAP. Here we summarize recent data about CIAP. RECENT FINDINGS: We discuss some of the latest articles regarding risk factors, comorbidities, and possible pathogenic factors regarding CIAP...
October 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657896/wilson-disease
#23
Annu Aggarwal, Mohit Bhatt
PURPOSE OF REVIEW: The aim of this article is to review recent developments in the areas of the disease features and treatment of Wilson disease, and survey disorders that share its pathophysiology or clinical symptoms. RECENT FINDINGS: Knowledge of the clinical spectrum of Wilson disease has expanded with recognition of patients who present in atypical age groups - patients with very early onset (<5 years) and those in whom symptoms present in mid-to-late adulthood...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657895/immunotherapy-in-progressive-supranuclear-palsy
#24
Pavan A Vaswani, Abby L Olsen
PURPOSE OF REVIEW: Progressive supranuclear palsy (PSP) is a progressive adult-onset neurodegenerative disease. Abnormally, phosphorylated forms of the microtubule-associated protein tau containing four repeat domains (4R-tau) aggregate in neurons. Additionally, increasing evidence suggests that secretion and uptake of fragments of abnormal 4R-tau may play a role in disease progression. This extracellular tau is a natural target for immunotherapy. RECENT FINDINGS: Three monoclonal antibodies targeting extracellular tau are in clinical stages of development...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657894/recent-therapeutic-prospects-for-machado-joseph-disease
#25
Maria do Carmo Costa
PURPOSE OF REVIEW: Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is a fatal, dominantly inherited, neurodegenerative disease caused by expansion of a CAG repeat in the coding region of the ATXN3 gene. No disease-modifying treatment is yet available for MJD/SCA3. This review discusses recently developed therapeutic strategies that hold promise as future effective treatments for this incurable disease. RECENT FINDINGS: As a result of the exploration of multiple therapeutic approaches over the last decade, the MJD/SCA3 field is finally starting to see options for disease-modifying treatments for this disease come into view on the horizon...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657893/therapeutic-strategies-for-huntington-s-disease
#26
Carlos Estevez-Fraga, Michael D Flower, Sarah J Tabrizi
PURPOSE OF REVIEW: Huntington's disease is a fatal autosomal dominant neurodegenerative disorder caused by a trinucleotide expansion in the HTT gene, and current therapies focus on symptomatic treatment. This review explores therapeutic approaches that directly target the pathogenic mutation, disrupt HTT mRNA or its translation. RECENT FINDINGS: Zinc-finger transcription repressors and CRISPR-Cas9 therapies target HTT DNA, thereby preventing all downstream pathogenic mechanisms...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657892/recent-genetic-advances-in-early-onset-dystonia
#27
Dora Steel, Manju A Kurian
PURPOSE OF REVIEW: The discovery of new disease-causing genes and availability of next-generation sequencing platforms have both progressed rapidly over the last few years. For the practicing neurologist, this presents an increasingly bewildering array both of potential diagnoses and of means to investigate them. We review the latest newly described genetic conditions associated with dystonia, and also address how the changing landscape of gene discovery and genetic testing can best be approached, from both a research and a clinical perspective...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657891/editorial-advances-in-rare-movement-disorders
#28
Nutan Sharma
No abstract text is available yet for this article.
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657890/magnetic-resonance-guided-focused-ultrasound-for-movement-disorders-clinical-and-neuroimaging-advances
#29
Raúl Martínez-Fernández, José A Pineda-Pardo
PURPOSE OF REVIEW: To describe the path of technological developments that have led to the actual application of MRI-guided focused ultrasound in multiple neurological disorders and to update the more recent technical advances in the field. An insight into the latest clinical achievements in movement disorders will be provided, together with the neuroimaging advances for the screening, planning, and outcome evaluation. RECENT FINDINGS: Developments, such as phased array transducers and MRI guidance have allowed the use of focused ultrasound to successfully perform incisionless therapeutic ablation in deep brain structures...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657889/prediction-of-motor-recovery-after-stroke-being-pragmatic-or-innovative
#30
Charlotte Rosso, Jean-Charles Lamy
PURPOSE OF REVIEW: This review considers both pragmatic and cutting-edge approaches for predicting motor stroke recovery over the period 2017-2019. It focuses on the predictive value of clinical scores and biomarkers including Transcranial Magnetic Stimulation (TMS) and MRI as well as more innovative alternatives. RECENT FINDINGS: Clinical scores combined with corticospinal tract (CST) integrity as assessed by both TMS-induced motor-evoked potential (MEP) and MRI predict motor recovery with an accuracy of about 75%...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657888/tremor-pathophysiology-lessons-from-neuroimaging
#31
A M Madelein van der Stouwe, Freek Nieuwhof, Rick C Helmich
PURPOSE OF REVIEW: We discuss the latest neuroimaging studies investigating the pathophysiology of Parkinson's tremor, essential tremor, dystonic tremor and Holmes tremor. RECENT FINDINGS: Parkinson's tremor is associated with increased activity in the cerebello-thalamo-cortical circuit, with interindividual differences depending on the clinical dopamine response of the tremor. Although dopamine-resistant Parkinson's tremor arises from a larger contribution of the (dopamine-insensitive) cerebellum, dopamine-responsive tremor may be explained by thalamic dopamine depletion...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657887/mri-of-neurodegeneration-with-brain-iron-accumulation
#32
Stéphane Lehéricy, Emmanuel Roze, Cyril Goizet, Fanny Mochel
PURPOSE OF REVIEW: The diagnosis of neurodegeneration with brain iron accumulation (NBIA) typically associates various extrapyramidal and pyramidal features, cognitive and psychiatric symptoms with bilateral hypointensities in the globus pallidus on iron-sensitive magnetic resonance images, reflecting the alteration of iron homeostasis in this area. This article details the contribution of MRI in the diagnosis by summarizing and comparing MRI patterns of the various NBIA subtypes. RECENT FINDINGS: MRI almost always shows characteristic changes combining iron accumulation and additional neuroimaging abnormalities...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657886/mr-imaging-and-spectroscopy-in-degenerative-ataxias-toward-multimodal-multisite-multistage-monitoring-of-neurodegeneration
#33
Gülin Öz, Ian H Harding, Janna Krahe, Kathrin Reetz
PURPOSE OF REVIEW: Degenerative ataxias are rare and currently untreatable movement disorders, primarily characterized by neurodegeneration in the cerebellum and brainstem. We highlight MRI studies with the most potential for utility in pending ataxia trials and underscore advances in disease characterization and diagnostics in the field. RECENT FINDINGS: With availability of advanced MRI acquisition methods and specialized software dedicated to the analysis of MRI of the cerebellum, patterns of cerebellar atrophy in different degenerative ataxias are increasingly well defined...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657885/machine-learning-for-classification-and-prediction-of-brain-diseases-recent-advances-and-upcoming-challenges
#34
Ninon Burgos, Olivier Colliot
PURPOSE OF REVIEW: Machine learning is an artificial intelligence technique that allows computers to perform a task without being explicitly programmed. Machine learning can be used to assist diagnosis and prognosis of brain disorders. Although the earliest articles date from more than ten years ago, research increases at a very fast pace. RECENT FINDINGS: Recent works using machine learning for diagnosis have moved from classification of a given disease versus controls to differential diagnosis...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657884/contribution-of-pet-mri-in-brain-diseases-in-clinical-practice
#35
Nadya Pyatigorskaya, Marie-Odile Habert, Laura Rozenblum
PURPOSE OF REVIEW: Hybrid PET- MRI is a technique that has the ability to improve diagnostic accuracy in many applications, whereas PET and MRI performed separately often fail to provide accurate responses to clinical questions. Here, we review recent studies and current developments in PET-MRI, focusing on clinical applications. RECENT FINDINGS: The combination of PET and MRI imaging methods aims at increasing the potential of each individual modality. Combined methods of image reconstruction and correction of PET-MRI attenuation are being developed, and a number of applications are being introduced into clinical practice...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657883/ultra-high-field-7-t-imaging-in-multiple-sclerosis
#36
Céline Louapre, Constantina A Treaba, Valeria Barletta, Caterina Mainero
PURPOSE OF REVIEW: Ultra-high field 7 T MRI has multiple applications for the in vivo characterization of the heterogeneous aspects underlying multiple sclerosis including the identification of cortical lesions, characterization of the different types of white matter plaques, evaluation of structures difficult to assess with conventional MRI (thalamus, cerebellum, spinal cord, meninges). RECENT FINDINGS: The sensitivity of cortical lesion detection at 7 T is twice than at lower field MRI, especially for subpial lesions, the most common cortical lesion type in multiple sclerosis...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32657882/magnetic-resonance-spectroscopy-of-isocitrate-dehydrogenase-mutated-gliomas-current-knowledge-on-the-neurochemical-profile
#37
Francesca Branzoli, Małgorzata Marjańska
PURPOSE OF REVIEW: Magnetic resonance spectroscopy (MRS) may play a key role for the management of patients with glioma. We highlighted the utility of MRS in the noninvasive diagnosis of gliomas with mutations in isocitrate dehydrogenase (IDH) genes, by providing an overview of the neurochemical alterations observed in different glioma subtypes, as well as during treatment and progression, both in vivo and ex vivo. RECENT FINDINGS: D-2-hydroxyglutarate (2HG) decrease during anticancer treatments was recently shown to be associated with altered levels of other metabolites, including lactate, glutamate and glutathione, suggesting that tumour treatment leads to a metabolic reprogramming beyond 2HG depletion...
August 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32520807/contribution-of-pet-mri-in-brain-diseases-in-clinical-practice
#38
Nadya Pyatigorskaya, Marie-Odile Habert, Laura Rozenblum
PURPOSE OF REVIEW: Hybrid PET- MRI is a technique that has the ability to improve diagnostic accuracy in many applications, whereas PET and MRI performed separately often fail to provide accurate responses to clinical questions. Here, we review recent studies and current developments in PET-MRI, focusing on clinical applications. RECENT FINDINGS: The combination of PET and MRI imaging methods aims at increasing the potential of each individual modality. Combined methods of image reconstruction and correction of PET-MRI attenuation are being developed, and a number of applications are being introduced into clinical practice...
June 8, 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32520806/advances-in-rare-movement-disorders
#39
Nutan Sharma
No abstract text is available yet for this article.
June 8, 2020: Current Opinion in Neurology
https://read.qxmd.com/read/32520805/recent-genetic-advances-in-early-onset-dystonia
#40
Dora Steel, Manju A Kurian
PURPOSE OF REVIEW: The discovery of new disease-causing genes and availability of next-generation sequencing platforms have both progressed rapidly over the last few years. For the practicing neurologist, this presents an increasingly bewildering array both of potential diagnoses and of means to investigate them. We review the latest newly described genetic conditions associated with dystonia, and also address how the changing landscape of gene discovery and genetic testing can best be approached, from both a research and a clinical perspective...
June 8, 2020: Current Opinion in Neurology
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