1,721,067 research outputs found
CLINICOGENETIC CORRELATIONS IN RARE COMPLEX MOVEMENT DISORDERS Focus on combined and complex dystonia phenotypes
Full text linkMovement disorders is relatively unique among neurology subspecialties in its reliance on clinical judgement to accurately define disease phenotypes which are often complex. Progress in genetics – particularly the advent of next-generation sequencing (NGS) – has enabled an unparalleled gene discovery and revealed unmatched intricacy of genotype-phenotype correlations in the field of movement disorders and neurodegeneration. “Deep phenotyping”, with detailed characterization and continual updating of movement disorder phenotypes, and the active involvement of movement disorder specialists in the multidisciplinary process to establish clinicogenetic correlations are the cornerstone of precision medicine and will have increasingly more crucial implications for the diagnosis, treatment and counseling of movement disorders in the advanced NGS era. This thesis summarizes the 18-month clinical and research experience of the PhD candidate in a hub center for the diagnosis and treatment of movement disorders (National Hospital for Neurology and Neurosurgery) and its neurogenetic research laboratory (UCL Queen Square Institute of Neurology) in the United Kingdom. It investigates clinicogenetic correlations of rare complex movement disorders, with particular focus on combined and complex dystonia phenotypes, including neurodegeneration with brain iron accumulation (NBIA) syndromes. General objectives of the projects herein reported were: 1) to characterize phenotypically a large cohort of patients with combined and complex dystonia syndromes; 2) to explore genetic causes of dystonia phenotypes through NGS techniques, including whole-exome (WES) and whole-genome sequencing (WGS); 3) to expand the phenotypic and genotypic spectrum of known genetic movement disorders; and 4) to investigate new possible candidate disease genes. This thesis consists of six chapters. After a general introduction (chapter I) and summary of aims (chapter II), chapter III reports on the retrospective clinical review and analysis of WES data of a large cohort of patients with complex movement disorder phenotypes, in particular dystonia and NBIA syndromes. Chapter IV describes preliminary results of an ongoing study on WGS to explore the genetic basis of dystonia, including the first association of a dystonia phenotype with the peroxisomal gene AMACR. Chapter V dissects the phenotype and genotype of PLA2G6-related parkinsonism based on data from 14 unpublished cases and a systematic literature review. Chapter VI provides final remarks and future directions
Neuropathic pain: diagnosis and treatment.
No full textNeuropathic pain (NP) develops as a consequence of a lesion or disease affecting the somatosensory pathways in the peripheral or central nervous system, and occurs in many neurological diseases (eg, peripheral neuropathy, radiculopathy, spinal cord injury, stroke and multiple sclerosis). It affects 6%-8% of the general population and its impact on quality of life, mood and sleep exceeds the burden of its causative pathology. A peculiar feature of NP is the coexistence of negative and positive symptoms and signs, reflecting loss-of-function and gain-of-function of the somatosensory system, respectively. NP has long been considered a difficult clinical issue because of the lack of a diagnostic gold standard and the unsatisfactory response to treatment. In recent years, a redefinition, diagnostic algorithm, and some guidelines on diagnosis and treatment of NP have been published. This review offers an updated overview on the definition, pathophysiology, clinical evaluation, diagnosis and treatment of NP and focuses on some of the most frequent NP conditions. We intend to help overcome uncertainties on NP and bridge the gap between evidence based medicine and the real clinical world
Diagnostic and therapeutic pitfalls in considering chronic pain as a disease.
No full textno abstract availabl
Solid grounds still needed in acupuncture clinical trials. 'Effects of motion style acupuncture treatment in acute low back pain patients with severe disability' by Shin et al.
No full textComment in Letter to the editor. Response. [Pain. 2014]Comment on Effects of motion style acupuncture treatment in acute low back pain patients with severe disability: a multicenter, randomized, controlled, comparative effectiveness trial. [Pain. 2013
The Italian Consensus Conference on Pain in Neurorehabilitation: rationale and methodology
Full text linkPain is very common in the neurorehabilitation setting, where it may not only represent a target for treatment but can also negatively influence rehabilitation procedures directly or through the side effects of painkillers. To date, there are neither guidelines nor consensus on how to assess and treat pain in neurorehabilitation. Because of the very scanty pieces of evidence on this topic, the Italian Consensus Conference on Pain in Neurorehabilitation (ICCPN) was promoted under the auspices of different scientific societies. This article illustrates the rationale, methodology, and topics of the ICCPN. The recommendations of the ICCPN will offer some information on how to deal with pain in neurorehabilitation and may represent the starting point for further studies
Toward an Early Real‐Time Quaking‐Induced Conversion–Based Diagnostic Biomarker for Lewy Body–Related Synucleinopathies
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Teaching Video NeuroImages: Bent spine syndrome as an early presentation of late-onset Pompe disease
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