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      The Role of Movement Analysis in Diagnosing and Monitoring Neurodegenerative Conditions: Insights from Gait and Postural Control

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          Abstract

          Quantifying gait and postural control adds valuable information that aids in understanding neurological conditions where motor symptoms predominate and cause considerable functional impairment. Disease-specific clinical scales exist; however, they are often susceptible to subjectivity, and can lack sensitivity when identifying subtle gait and postural impairments in prodromal cohorts and longitudinally to document disease progression. Numerous devices are available to objectively quantify a range of measurement outcomes pertaining to gait and postural control; however, efforts are required to standardise and harmonise approaches that are specific to the neurological condition and clinical assessment. Tools are urgently needed that address a number of unmet needs in neurological practice. Namely, these include timely and accurate diagnosis; disease stratification; risk prediction; tracking disease progression; and decision making for intervention optimisation and maximising therapeutic response (such as medication selection, disease staging, and targeted support). Using some recent examples of research across a range of relevant neurological conditions—including Parkinson’s disease, ataxia, and dementia—we will illustrate evidence that supports progress against these unmet clinical needs. We summarise the novel ‘big data’ approaches that utilise data mining and machine learning techniques to improve disease classification and risk prediction, and conclude with recommendations for future direction.

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          Falls and freezing of gait in Parkinson's disease: a review of two interconnected, episodic phenomena.

          Falls and freezing of gait are two "episodic" phenomena that are common in Parkinson's disease. Both symptoms are often incapacitating for affected patients, as the associated physical and psychosocial consequences have a great impact on the patients' quality of life, and survival is diminished. Furthermore, the resultant loss of independence and the treatment costs of injuries add substantially to the health care expenditures associated with Parkinson's disease. In this clinically oriented review, we summarise recent insights into falls and freezing of gait and highlight their similarities, differences, and links. Topics covered include the clinical presentation, recent ideas about the underlying pathophysiology, and the possibilities for treatment. A review of the literature and the current state-of-the-art suggests that clinicians should not feel deterred by the complex nature of falls and freezing of gait; a careful clinical approach may lead to an individually tailored treatment, which can offer at least partial relief for many affected patients. Copyright 2004 Movement Disorder Society
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            The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

            Background: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology. Summary: Our objective was to assess the global distribution and prevalence of HCA and HSP by a systematic review and meta-analysis of prevalence studies. The MEDLINE, ISI Web of Science and Scopus databases were searched (1983-2013) for studies performed in well-defined populations and geographical regions. Two independent reviewers assessed the studies and extracted data and predefined methodological parameters. Overall, 22 studies were included, reporting on 14,539 patients from 16 countries. Multisource population-based studies yielded higher prevalence values than studies based primarily on hospitals or genetic centres. The prevalence range of dominant HCA was 0.0-5.6/10 5 , with an average of 2.7/10 5 (1.5-4.0/10 5 ). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (AR) HCA (AR-HCA) prevalence range was 0.0-7.2/10 5 , the average being 3.3/10 5 (1.8-4.9/10 5 ). Friedreich ataxia was the most frequent AR-HCA, followed by ataxia with oculomotor apraxia or ataxia-telangiectasia. The prevalence of autosomal dominant (AD) HSP (AD-HSP) ranged from 0.5 to 5.5/10 5 and that of AR-HSP from 0.0 to 5.3/10 5 , with pooled averages of 1.8/10 5 (95% CI: 1.0-2.7/10 5 ) and 1.8/10 5 (95% CI: 1.0-2.6/10 5 ), respectively. The most common AD-HSP form in every population was spastic paraplegia, autosomal dominant, type 4 (SPG4), followed by SPG3A, while SPG11 was the most frequent AR-HSP, followed by SPG15. In population-based studies, the number of families without genetic diagnosis after systematic testing ranged from 33 to 92% in the AD-HCA group, and was 40-46% in the AR-HCA, 45-67% in the AD-HSP and 71-82% in the AR-HSP groups. Key Messages: Highly variable prevalence values for HCA and HSP are reported across the world. This variation reflects the different genetic make-up of the populations, but also methodological heterogeneity. Large areas of the world remain without prevalence studies. From the available data, we estimated that around 1:10,000 people are affected by HCA or HSP. In spite of advances in genetic research, most families in population-based series remain without identified genetic mutation after extensive testing.
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              Clinical and laboratory measures of postural balance in an elderly population.

              The objective of this cross-sectional study was to compare scores on the Balance Scale with laboratory measures of postural sway and other clinical measures of balance and mobility. Thirty-one elderly subjects were assessed on the clinical measures and the laboratory tests of postural sway while standing still and in response to pseudorandom movements of the platform. The average correlation between the Balance Scale and the spontaneous sway measures was -.55. It was slightly lower (r = -.38) for the same parameters measured during the pseudorandom tests. There were high correlations between the Balance Scale and the Balance Sub-Scale developed by Tinetti (r = .91), Barthel Mobility sub-scale (r = .67), and timed "Up and Go" (r = -.76). The Balance Scale was the most efficient measure (effect size > 1) to statistically discriminate between subjects according to their use of each type of mobility aide (walker, cane, no aids). These data contribute to existing information on the performance of the Balance Scale and supports the validity of the Balance Scale in this geriatric population.
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                Author and article information

                Journal
                Brain Sci
                Brain Sci
                brainsci
                Brain Sciences
                MDPI
                2076-3425
                06 February 2019
                February 2019
                : 9
                : 2
                : 34
                Affiliations
                [1 ]Institute of Neuroscience/Institute for Ageing, Newcastle University, Newcastle Upon Tyne NE4 5PL, UK; christopher.buckley2@ 123456newcastle.ac.uk (C.B.); Lisa.Alcock@ 123456newcastle.ac.uk (L.A.); R.Mc-Ardle2@ 123456newcastle.ac.uk (R.M.); Rana.zia-ur-Rehman@ 123456newcastle.ac.uk (R.Z.U.R.); Silvia.Del-Din@ 123456newcastle.ac.uk (S.D.D.); alison.yarnall@ 123456newcastle.ac.uk (A.J.Y.)
                [2 ]Department of Mechanical Engineering, Sheffield University, Sheffield S1 3JD, UK; c.mazza@ 123456sheffield.ac.uk
                [3 ]The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle Upon Tyne NE7 7DN, UK
                Author notes
                [* ]Correspondence: lynn.rochester@ 123456ncl.ac.uk ; Tel.: +0191-208-1291 (direct line); +44-191-208-1250 (reception); Fax: +44-191-208-1251
                [†]

                These authors contributed equally.

                Author information
                https://orcid.org/0000-0003-1154-4751
                https://orcid.org/0000-0002-5215-1746
                Article
                brainsci-09-00034
                10.3390/brainsci9020034
                6406749
                30736374
                7a5dd0eb-24aa-4e1a-b265-fde7f5e3d2e4
                © 2019 by the authors.

                Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license ( http://creativecommons.org/licenses/by/4.0/).

                History
                : 18 January 2019
                : 31 January 2019
                Categories
                Review

                movement science,parkinson’s disease,ataxia,dementia,machine learning,deep learning,risk prediction,disease phenotyping

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