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121. Corneal cross-linking for keratoconus caused by compulsive eye rubbing in patients with Tourette syndrome: Three case reports. Full Text available with Trip Pro

Corneal cross-linking for keratoconus caused by compulsive eye rubbing in patients with Tourette syndrome: Three case reports. Eye rubbing is an important risk factor for keratoconus progression. Tourette syndrome (TS) is a neurological disorder, and approximately 50% of individuals with TS exhibit obsessive-compulsive behaviors including eye rubbing. We report the effects of corneal cross-linking (CXL) on the progression of keratoconus combined with psychiatric treatment for 3 patients

2019 Medicine

122. Blood-brain barrier impairment and hypoperfusion are linked in cerebral small vessel disease. (Abstract)

). This relation was also observed in the perilesional zones, which became stronger in the proximity of WMH (p = 0.03).BBB impairment and hypoperfusion appear in the WMH and NAWM, which increase in the proximity of the WMH, and are linked. Both BBB and CBF are regulated in the neurovascular unit (NVU) and the observed link might be due to the physiologic regulation mechanism of the NVU. This link may suggest an early overall deterioration of this unit.© 2019 American Academy of Neurology. (...) Blood-brain barrier impairment and hypoperfusion are linked in cerebral small vessel disease. To investigate the link between blood-brain-barrier (BBB) permeability and cerebral blood flow (CBF) and the relation with white matter hyperintensities (WMH) in cerebral small vessel disease (cSVD).Twenty-seven patients with cSVD received dynamic susceptibility contrast and dynamic contrast-enhanced MRI to determine CBF and BBB permeability (expressed as leakage rate and volume), respectively

2019 Neurology

123. Interleukin 9 alterations linked to alzheimer disease in african americans. Full Text available with Trip Pro

Interleukin 9 alterations linked to alzheimer disease in african americans. Compared to older Caucasians, older African Americans have higher risks of developing Alzheimer disease (AD) and lower cerebrospinal fluid (CSF) tau biomarker levels. It is not known whether tau-related differences begin earlier in life or whether race modifies other AD-related biomarkers such as inflammatory proteins.We performed multiplex cytokine analysis in a healthy middle-aged cohort with family history of AD (n (...) = 68) and an older cohort (n = 125) with normal cognition (NC), mild cognitive impairment, or AD dementia. After determining baseline interleukin (IL)-9 level and AD-associated IL-9 change to differ according to race, we performed immunohistochemical analysis for proteins mechanistically linked to IL-9 in brains of African Americans and Caucasians (n = 38), and analyzed postmortem IL-9-related gene expression profiles in the publicly available Mount Sinai cohort (26 African Americans and 180

2019 Annals of Neurology

124. Soluble ST2 links inflammation to outcome after subarachnoid hemorrhage. (Abstract)

Soluble ST2 links inflammation to outcome after subarachnoid hemorrhage. To investigate whether soluble growth stimulation expressed gene 2 (sST2), a prognostic marker in cardiovascular and inflammatory disorders, is associated with neurological injury after aneurysmal subarachnoid hemorrhage (SAH).We studied SAH patients from 2 independent cohorts. Outcome assessments included functional status at 90 days using the modified Rankin Scale (mRS), mortality, and delayed cerebral ischemia (DCI (...)  ± 272 AU vs 34,869 ± 183 AU, p < 0.001).Plasma sST2 predicts DCI, functional outcome, and mortality after SAH, independent of clinical and radiographic markers. Elevated sST2 is also associated with changes in CD14+ CD16+ monocytes. ANN NEUROL 2019;86:384-394.© 2019 American Neurological Association.

2019 Annals of Neurology

125. Amylin as a potential link between type 2 diabetes and alzheimer disease. (Abstract)

Amylin as a potential link between type 2 diabetes and alzheimer disease. Alzheimer disease (AD) is the leading cause of dementia, and although its etiology remains unclear, it seems that type 2 diabetes mellitus (T2DM) and other prediabetic states of insulin resistance could contribute to the appearance of sporadic AD. As such, we have assessed whether tau and β-amyloid (Aβ) deposits might be present in pancreatic tissue of subjects with AD, and whether amylin, an amyloidogenic protein (...) new evidence of a potential overlap in the mechanisms underlying the pathogenesis of T2DM and AD. ANN NEUROL 2019;86:539-551.© 2019 American Neurological Association.

2019 Annals of Neurology

126. Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy. (Abstract)

Quantitative MR neurography biomarkers in 5q-linked spinal muscular atrophy. To characterize and quantify peripheral nerve lesions and muscle degeneration in clinically, genetically, and electrophysiologically well-classified, nonpediatric patients with 5q-linked spinal muscular atrophy (SMA) by high-resolution magnetic resonance neurography (MRN).Thirty-one adult patients with genetically confirmed 5q-linked SMA types II, IIIa, and IIIb and 31 age- and sex-matched healthy volunteers were (...) prospectively investigated. All patients received neurologic, physiotherapeutic, and electrophysiologic assessments. MRN at 3.0T with anatomic coverage from the lumbosacral plexus and proximal thigh down to the tibiotalar joint was performed with dual-echo 2D relaxometry sequences with spectral fat saturation and a 3D T2-weighted inversion recovery sequence. Detailed quantification of nerve injury by morphometric and microstructural MRN markers and qualitative classification of fatty muscle degeneration

2019 Neurology

127. Mild behavioral impairment is linked to worse cognition and brain atrophy in Parkinson disease. (Abstract)

Mild behavioral impairment is linked to worse cognition and brain atrophy in Parkinson disease. To evaluate the associations of mild behavioral impairment (MBI) with cognitive deficits and patterns of gray matter changes in Parkinson disease (PD).Sixty patients with PD without dementia and 29 healthy controls underwent a cognitive neuropsychological evaluation and structural MRI scan. MBI was evaluated with the MBI Checklist (MBI-C), a rating scale designed to elicit emergent neuropsychiatric (...) deficits in PD, which have been associated with a faster rate of progression to dementia. These initial results suggest that MBI might be an early and important marker for incident cognitive decline and dementia in patients with PD.© 2019 American Academy of Neurology.

2019 Neurology

128. Bimanual Gesture Imitation Links to Cognition and Olfaction. (Abstract)

Bimanual Gesture Imitation Links to Cognition and Olfaction. Given the need to detect subclinical changes in brain health that sometimes occur with aging in apparently healthy older adults, we assessed whether bimanual gesture imitation performance, simple to assess clinically, can detect age effects and alterations in cognition, olfaction, and movement.Cross-sectional study.Baltimore Longitudinal Study of Aging.Men and women, aged 22 to 101 years, without cognitive impairment, dementia, stroke (...) with younger age. After adjustment, a worse score was associated with worse olfaction, executive function, and visuospatial ability. Gesture imitation score was not associated with other cognitive measures or motor function.In persons without clinically detectable neurological conditions, poor bimanual gesture imitation is associated with other indicators of brain health, including olfaction and selected cognitive function domains. Bimanual gesture imitation may be useful clinically to detect subtle brain

2019 Journal of the American Geriatrics Society

129. Weight loss and improved mood after aerobic exercise training are linked to lower plasma anandamide in healthy people. (Abstract)

Weight loss and improved mood after aerobic exercise training are linked to lower plasma anandamide in healthy people. Anandamide, a major endocannabinoid, participates in energy metabolism homeostasis and neurobehavioral processes. In a secondary analysis of an open-label, randomized controlled trial, we investigated the long-term effect of aerobic exercise on resting plasma anandamide, and explored its relationship with changes in body weight, cardiorespiratory fitness, and mood status (...) in healthy, physically inactive individuals. Participants recruited between March 2013 to August 2015 at the UNIFESP's Neurology/Psychobiology Department were randomly allocated into a 12-weeks supervised moderate exercise program, or into waitlist, control condition. Thirty-four participants (age = 38 ± 11.5, BMI = 26.6 ± 3.6) were intention to treat-analysed (Exercise: n = 17; Control: n = 17). After intervention, there were significant decreases in plasma anandamide (p < .01), anger, anxiety, and body

2019 Physiology & behavior Controlled trial quality: uncertain

130. Levodopa-induced dyskinesia is closely linked to progression of frontal dysfunction in PD. (Abstract)

Levodopa-induced dyskinesia is closely linked to progression of frontal dysfunction in PD. To assess the relationship between the development of levodopa-induced dyskinesia (LID) and longitudinal changes in cognition.In this retrospective cohort study, we recruited 119 patients with Parkinson disease (PD) who underwent baseline and follow-up neuropsychological evaluations and were treated with levodopa for >5 years. On the basis of LID development, the patients were classified as patients (...) ) in the PD-LID- group.These results demonstrated that LID was closely associated with the progression of cognitive decline, especially frontal executive dysfunction, and the development of PD dementia.© 2019 American Academy of Neurology.

2019 Neurology

131. Voice and swallowing dysfunction in X-linked dystonia parkinsonism. (Abstract)

Voice and swallowing dysfunction in X-linked dystonia parkinsonism. To systematically characterize and describe voice and swallowing manifestations in patients with X-linked dystonia parkinsonism (XDP) and correlate with quality-of-life (QOL) measures.Thirty-four patients with XDP with communication and swallowing difficulties underwent neurological examination, head and neck examination, nasopharyngoscopy, QOL surveys (Swallowing Quality of Life questionnaire [SWAL-QOL] and Voice Handicap (...) and voice impairment in XDP is not well characterized and presents a more distinctive phenomenology than other neurological disorders, with a unique set of challenges for treatment. This is the first study to systematically evaluate laryngeal and pharyngeal dysfunction in XDP patients and correlate with QOL measures.4 Laryngoscope, 130:171-177, 2020.© 2019 The American Laryngological, Rhinological and Otological Society, Inc.

2019 Laryngoscope

132. Ageing and epigenetics: linking neurodevelopmental and neurodegenerative disorders. (Abstract)

intellectual disability and cognitive ageing. Epigenetic pathways may strengthen the links between neurodevelopmental disorders and neurodegenerative diseases. WHAT THIS PAPER ADDS: DNA methylation has relevance to both neurological development and neurodegeneration. Links between epigenetics, genotype and phenotype are emerging.© 2019 Mac Keith Press. (...) Ageing and epigenetics: linking neurodevelopmental and neurodegenerative disorders. Epigenetics has classically been recognized as crucial to neurodevelopment and neurodevelopmental disorders. More recently its role in ageing processes, including neurodegenerative disorders has emerged, although far more research is required in this area, particularly in humans. Epigenetic processes that regulate gene expression comprise strata of DNA modification (e.g. methylation), histone modification (e.g

2019 Developmental Medicine and Child Neurology

133. Tumor-infiltrating T-cell Receptor-beta Repertoires are Linked to the Risk of Late Chemoradiation-induced Temporal Lobe Necrosis in Locally Advanced Nasopharyngeal Carcinoma. (Abstract)

Tumor-infiltrating T-cell Receptor-beta Repertoires are Linked to the Risk of Late Chemoradiation-induced Temporal Lobe Necrosis in Locally Advanced Nasopharyngeal Carcinoma. Temporal lobe necrosis (TLN), a late complication of nasopharyngeal carcinoma (NPC) after concurrent chemoradiotherapy (CCRT), causes permanent neurologic deficits. We aimed to investigate the risk factors for the development of CCRT-induced TLN in locally advanced NPC patients.The incidence of CCRT-induced TLN (...)  < .0001). We found that in the T4 NPC patients, univariate and multivariate analyses showed the radiation tolerance dose-volume effect was not an absolutely independent factor influencing TLN occurrence. However, increased TLN risk was observed in association with higher pre-CCRT baseline and post-CCRT neutrophil-to-lymphocyte ratios. There was also a link between intratumoral TCRbeta repertoire subtypes and TLN incidence. Combining the inherent TCRbeta genomic susceptibility with the clinical

2019 Biology and Physics

134. Emerging links between pediatric lysosomal storage diseases and adult parkinsonism. (Abstract)

role of lysosomes in neuronal homeostasis, neurological manifestations, including movement disorders, can accompany many lysosomal storage disorders. Over the last decade, evidence from genetics, clinical epidemiology, cell biology, and biochemistry have converged to implicate links between lysosomal storage disorders and adult-onset movement disorders. The strongest evidence comes from mutations in Glucocerebrosidase, which cause Gaucher's disease and are among the most common and potent risk (...) Emerging links between pediatric lysosomal storage diseases and adult parkinsonism. Lysosomal storage disorders comprise a clinically heterogeneous group of autosomal-recessive or X-linked genetic syndromes caused by disruption of lysosomal biogenesis or function resulting in accumulation of nondegraded substrates. Although lysosomal storage disorders are diagnosed predominantly in children, many show variable expressivity with clinical presentations possible later in life. Given the important

2019 Movement Disorders

135. A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. (Abstract)

A hexanucleotide repeat modifies expressivity of X-linked dystonia parkinsonism. X-linked dystonia parkinsonism (XDP) is a neurodegenerative movement disorder caused by a single mutation: SINE-VNTR-Alu (SVA) retrotransposon insertion in TAF1. Recently, a (CCCTCT)n repeat within the SVA insertion has been reported as an age-at-onset (AAO) modifier in XDP. Here we investigate the role of this hexanucleotide repeat in modifying expressivity of XDP.We genotyped the hexanucleotide repeat in 355 XDP (...) expressivity in XDP. RN-dependent TAF1 repression and subsequent differences in TAF1 mRNA levels in patients may be potentiated in the brain through somatic variability leading to the neurological phenotype. ANN NEUROL 2019.© 2019 American Neurological Association.

2019 Annals of Neurology

136. Exploring causal pathways linking cerebral small vessel diseases burden to poststroke depressive symptoms with structural equation model analysis. (Abstract)

Exploring causal pathways linking cerebral small vessel diseases burden to poststroke depressive symptoms with structural equation model analysis. Cerebral small vessel diseases (SVD) are associated with poststroke depressive symptoms (PDS). The mechanisms underlying the association between SVD burden and PDS are unclear. This study investigated the clinical pathways linking SVD burden to PDS.A cohort of 563 patients with acute ischemic stroke were examined at three and fifteen months after (...) all four SVD markers in structural equation modeling (SEM). SEM was further employed to examine the direct and indirect linking pathways between SVD burden, infarct volumes, stroke severity, poststroke cognitive and physical dysfunctions, and PDS.The latent SVD burden was directly associated with more severe PDS at the 3-month follow-up (path coefficient=0.11), while SVD burden and PDS at the 15-month were mainly linked through PDS at the 3-month follow-up (path coefficient=0.48). The volume

2019 Journal of Affective Disorders

137. MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy. (Abstract)

MRI brain lesions in asymptomatic boys with X-linked adrenoleukodystrophy. To describe the brain MRI findings in asymptomatic patients with childhood cerebral adrenoleukodystrophy (CCALD).We retrospectively reviewed a series of biochemically or genetically confirmed cases of adrenoleukodystrophy followed at our institution between 2001 and 2015. We identified and analyzed 219 brain MRIs from 47 asymptomatic boys (median age 6.0 years). Patient age, MRI scan, and brain lesion characteristics (...) patients (r = -0.745; p < 0.0001). Older patients (median age 14.4 y/o) tended to undergo spontaneous arrest of disease. Early lesions grew 46× faster when still limited to the splenium, genu of the corpus callosum, or the brainstem (p = 0.001).We provide a description of CCALD lesion development in a cohort of asymptomatic boys. Understanding the early stages of CCALD is crucial to optimize treatments for children diagnosed by newborn screening.© 2019 American Academy of Neurology.

2019 Neurology

138. X-linked myotubular myopathy: A prospective international natural history study. (Abstract)

X-linked myotubular myopathy: A prospective international natural history study. Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures.We designed an international prospective and longitudinal natural history study in patients with XLMTM and assessed muscle strength and motor (...) neutralizing activity was detected in 26% with 2 patients having an inhibitory titer >1:10.Our data confirm that XLMTM is slowly progressive for male survivors regardless of their phenotype and provide outcome validation and natural history data that can support clinical development in this population.NCT02057705.© 2019 American Academy of Neurology.

2019 Neurology

139. Headache: an important symptom possibly linked to white matter lesions in thalassaemia. (Abstract)

Headache: an important symptom possibly linked to white matter lesions in thalassaemia. Neurological manifestations are reported only occasionally in patients with thalassaemia and are given much less prominence than the complications related to anaemia and iron overload. White matter changes (WMCs) on magnetic resonance imaging (MRI) in patients with thalassaemia were first reported two decades ago but the significance of these lesions remains unclear. We studied the neurological and cognitive

2019 British journal of haematology

140. Succinate links atrial dysfunction and cardioembolic stroke. Full Text available with Trip Pro

underlying link between CE stroke and energy metabolism.© 2019 American Academy of Neurology. (...) Succinate links atrial dysfunction and cardioembolic stroke. To determine whether altered metabolic profiles represent a link between atrial dysfunction and cardioembolic (CE) stroke, and thus whether underlying dysfunctional atrial substrate may contribute to thromboembolism risk in CE stroke.A total of 144 metabolites were measured using liquid chromatography-tandem mass spectrometry in plasma samples collected within 9 hours of stroke onset in 367 acute stroke patients. Stroke subtype

2019 Neurology

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