(2017) Predictors of survival in progressive supranuclear palsy and multiple system atrophy: a systematic review and meta-analysis. Journal of Neurology, Neurosurgery and Psychiatry, 88 (16). This version is available from Sussex Research Online: http://sro.sussex.ac.uk/67644/ This document is made available in accordance with publisher policies and may differ from the published version or from the version of record. If you wish to cite this item you are advised to consult the publisher's version. Please see the URL above for details on accessing the published version. Copyright and reuse:Sussex Research Online is a digital repository of the research output of the University.Copyright and all moral rights to the version of the paper presented here belong to the individual author(s) and/or other copyright owners. To the extent reasonable and practicable, the material made available in SRO has been checked for eligibility before being made available.Copies of full text items generally can be reproduced, displayed or performed and given to third parties in any format or medium for personal research or study, educational, or not-for-profit purposes without prior permission or charge, provided that the authors, title and full bibliographic details are credited, a hyperlink and/or URL is given for the original metadata page and the content is not changed in any way. ABSTRACTObjective: To undertake a systematic review and meta-analysis of studies that investigated prognostic factors and survival in patients with progressive supranuclear palsy (PSP) and multiple system atrophy (MSA).Methods: Publications of at least 10 patients with a likely or confirmed diagnosis of PSP or MSA were eligible for inclusion. Methodological quality was rated using a modified version of the Quality in Prognostic Studies tool. For frequently examined prognostic factors, hazard ratios (HR) derived by univariate and multivariate analysis were pooled in separate subgroups; other results were synthesised narratively and HRs could not be reported here. Results:Thirty-seven studies presenting findings on 6193 patients (1911 PSP, 4282 MSA) fulfilled the inclusion criteria. We identified the following variables as unfavourable predictors of survival: In PSP: PSP-Richardson's phenotype (univariate HR: 2.53; 95%CIs: 1.69, 3.78), early dysphagia and early cognitive symptoms. In MSA: severe dysautonomia and early development of combined autonomic and motor features but not MSA phenotype (multivariate HR: 1.22; 95%CIs: 0.83, 1.80).In PSP and MSA survival was predicted by early falls (multivariate HR: 2.32; 95%CIs: 1.94, 2.77), the NNIPPS Parkinson plus score and the Clinical Global Impression disease severity score but not sex (multivariate HR: 0.93; 95%CIs: 0.67, 1.28). There was conflicting evidence regarding the prognostic effect of age at onset and stridor. Conclusion:Several clinical variables were strongly associated with shorter survival in PSP and MSA. Results on most prognostic factors were consistent across methodologically diverse studies;...
This matched survey underscores the broad impact that Parkinson's has on daily life on both PwPs and their care partners, and indicates the need for improved communication between PwPs, care partners and their physicians.
Long-term neurological conditions (LTNCs) often cause debilitating symptoms. Better understanding of symptom dimensions in LTNCs is needed to support health professionals and improve care. This can be achieved by exploring the factor structure of a standardised measure of symptoms in LTNC patients. The symptom subscale of the Integrated Palliative Outcome Scale for LTNCs (IPOS Neuro-S24) comprises 24 items measuring symptom severity. Descriptive statistics and psychometric properties of the scale were assessed, followed by differential item functioning (DIF), exploratory factor analysis (EFA) and confirmatory factor analysis (CFA). Data from N = 238 patients were analysed. The mean IPOS Neuro S-24 score was 27.0 (possible range 0–96) and floor effects were found for 21 items. The scale had good internal consistency (Cronbach’s alpha = 0.77). Weak evidence of DIF was found for nine items. All but one item (falls) loaded onto four factors with loadings > 0.3. The factors represented four clinically meaningful symptom dimensions: fatigue, motor symptoms, oral problems and non-motor symptoms. We identified a reliable four-factor structure of symptom experience in LTNC patients. The results suggest that symptom dimensions are common across LTNCs. The IPOS Neuro S-24 is an appropriate tool to measure symptoms in LTNC patients, which may improve care.
The estimation of pathogenicity and penetrance of novel prion protein gene (PRNP) variants presents significant challenges, particularly in the absence of family history, which precludes the application of Mendelian segregation. Moreover, the ambiguities of prion disease pathophysiology renders conventional in silico predictions inconclusive. Here, we describe 2 patients with rapid cognitive decline progressing to akinetic mutism and death within 10 weeks of symptom onset, both of whom possessed the novel T201S variant in PRNP. Clinically, both satisfied diagnostic criteria for probable sporadic Creutzfeldt-Jakob disease and in one, the diagnosis was confirmed by neuropathology. While computational analyses predicted that T201S was possibly deleterious, molecular strain typing, prion protein structural considerations, and calculations leveraging large-scale population data (gnomAD) indicate that T201S is at best either of low penetrance or nonpathogenic. Thus, we illustrate the utility of harnessing multiple lines of prion disease–specific evidence in the evaluation of the T201S variant, which may be similarly applied to assess other novel variants in PRNP.
A 79-year-old woman presented with dystonic posturing of the right leg while walking and an action tremor of her hands, both of which were levodopa responsive. She subsequently developed gait freezing. However, there was neither generalised bradykinesia nor rigidity. Structural imaging showed no significant changes, and a dopamine transporter scan was normal. She subsequently required rapidly escalating doses of levodopa in order to achieve symptom control, raising concerns over the possible development of a dopamine dysregulation syndrome. Issues raised included the difficulties of managing patients with a rare diagnosis and the role of dopaminergic medication with the potential for abuse.
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