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Journal of Neurology

Paula Castro, Shahid Zaman, Anthony Holland
People with Down's syndrome (DS) are at high risk for developing Alzheimer's disease (AD) at a relatively young age. This increased risk is not observed in people with intellectual disabilities for reasons other than DS and for this reason it is unlikely to be due to non-specific effects of having a neurodevelopmental disorder but, instead, a direct consequence of the genetics of DS (trisomy 21). Given the location of the amyloid precursor protein (APP) gene on chromosome 21, the amyloid cascade hypothesis is the dominant theory accounting for this risk, with other genetic and environmental factors modifying the age of onset and the course of the disease...
October 24, 2016: Journal of Neurology
Julia Pakpoor, Raph Goldacre, Michael J Goldacre
No abstract text is available yet for this article.
October 24, 2016: Journal of Neurology
Federica Agosta, Roberto Gatti, Elisabetta Sarasso, Maria Antonietta Volonté, Elisa Canu, Alessandro Meani, Lidia Sarro, Massimiliano Copetti, Erik Cattrysse, Eric Kerckhofs, Giancarlo Comi, Andrea Falini, Massimo Filippi
Gait disorders represent a therapeutic challenge in Parkinson's disease (PD). This study investigated the efficacy of 4-week action observation training (AOT) on disease severity, freezing of gait and motor abilities in PD, and evaluated treatment-related brain functional changes. 25 PD patients with freezing of gait were randomized into two groups: AOT (action observation combined with practicing the observed actions) and "Landscape" (same physical training combined with landscape-videos observation). At baseline and 4-week, patients underwent clinical evaluation and fMRI...
October 24, 2016: Journal of Neurology
Xingkai An, Jie Fang, Qing Lin, Congxia Lu, Qilin Ma, Hongli Qu
Migraine is a common and disabling nervous system disease with a significant genetic predisposition. The sex hormones play an important role in the pathogenesis of migraine. However, the conclusions of the previous genetic relation studies are conflicting. The aim of this study is to determine whether variants in genes involved in estrogen receptor and estrogen hormone metabolism are related to Chinese migraine. By employing a case-control approach, 8 SNPs in the ESR1, ESR2, and CYP19A1 genes are studied in a cohort of 494 migraine cases and 533 controls...
October 24, 2016: Journal of Neurology
Quinten van Geest, B Westerik, Y D van der Werf, J J G Geurts, H E Hulst
Sleep disturbances are common in multiple sclerosis (MS), but its impact on cognition and functional connectivity (FC) of the hippocampus and thalamus is unknown. Therefore, we investigated the relationship between sleep disturbances, cognitive functioning and resting-state (RS) FC of the hippocampus and thalamus in MS. 71 MS patients and 40 healthy controls underwent neuropsychological testing and filled out self-report questionnaires (anxiety, depression, fatigue, and subjective cognitive problems). Sleep disturbances were assed with the five-item version of the Athens Insomnia Scale...
October 24, 2016: Journal of Neurology
Fary Khan, Bhasker Amatya, Mary P Galea, Roman Gonzenbach, Jürg Kesselring
The prevalence of disability due to neurological conditions is escalating worldwide. Neurological disorders have significant disability-burden with long-term functional and psychosocial issues, requiring specialized rehabilitation services for comprehensive management, especially treatments tapping into brain recovery 'neuroplastic' processes. Neurorehabilitation is interdisciplinary and cross-sectorial, requiring coordinated effort of diverse sectors, professions, patients and community to manage complex condition-related disability...
October 24, 2016: Journal of Neurology
R J Willcocks, W T Triplett, S C Forbes, H Arora, C R Senesac, D J Lott, T R Nicholson, W D Rooney, G A Walter, K Vandenborne
There is a pressing need for biomarkers and outcomes that can be used across disease stages in Duchenne muscular dystrophy (DMD), to facilitate the inclusion of a wider range of participants in clinical trials and to improve our understanding of the natural history of DMD. Quantitative magnetic resonance imaging (qMRI) and spectroscopy (MRS) biomarkers show considerable promise in both the legs and forearms of individuals with DMD, but have not yet been examined in functionally important proximal upper extremity muscles such as the biceps brachii and deltoid...
October 24, 2016: Journal of Neurology
Andrea Calvo, Cristina Moglia, Christian Lunetta, Kalliopi Marinou, Nicola Ticozzi, Gianluca Drago Ferrante, Carlo Scialo, Gianni Sorarù, Francesca Trojsi, Amelia Conte, Yuri M Falzone, Rosanna Tortelli, Massimo Russo, Adriano Chiò, Valeria Ada Sansone, Gabriele Mora, Vincenzo Silani, Paolo Volanti, Claudia Caponnetto, Giorgia Querin, Maria Rosaria Monsurrò, Mario Sabatelli, Nilo Riva, Giancarlo Logroscino, Sonia Messina, Nicola Fini, Jessica Mandrioli
The aim of this multicenter, retrospective study is to investigate the role of clinical characteristics and therapeutic intervention on ALS prognosis. The study included patients diagnosed from January 1, 2009 to December 31, 2013 in 13 Italian referral centers for ALS located in 10 Italian regions. Caring neurologists collected a detailed phenotypic profile and follow-up data until death into an electronic database. One center collected also data from a population-based registry for ALS. 2648 incident cases were collected...
October 24, 2016: Journal of Neurology
Ileok Jung, Seo-Young Choi, Hyo-Jung Kim, Ji-Soo Kim
Even though dizziness is a common symptom of heat illness, comprehensive evaluation of the vestibular function has not been available in this potentially life-threatening disorder. Three patients developed vertigo about a week after heat exposure. Evaluation showed bilateral impairments of the vestibulo-ocular reflex during head impulses and the signs of vestibulocerebellar dysfunction that included spontaneous downbeat nystagmus, gaze-evoked nystagmus, and positional downbeat nystagmus. Exposure to excessive heat may give rise to delayed vestibulopathy by damaging the vestibulocerebellum...
October 20, 2016: Journal of Neurology
Julia Granerod, Nicholas W S Davies, Parashar P Ramanuj, Ava Easton, David W G Brown, Sara L Thomas
The true extent of sequelae in encephalitis survivors relative to rates within the general population is not known. This study aimed to quantify increased risks of epilepsy, depressive disorders, anxiety disorders, psychotic disorders, bipolar disorder, cognitive problems, dementia, headache, and alcohol abuse among encephalitis cases. 2460 exposed individuals diagnosed with incident encephalitis in the Clinical Practice Research Datalink and 47,914 unexposed individuals without a history of encephalitis were included...
October 20, 2016: Journal of Neurology
Francesca Rosafio, Maria Luisa Dell'Acqua, Bruno Madeo, Elda Kara, Laura Vandelli, Stefano Vallone, Guido Bigliardi, Livio Picchetto, Paolo Nichelli, Andrea Zini
No abstract text is available yet for this article.
October 20, 2016: Journal of Neurology
Ekkehardt Kumbier, Uwe K Zettl
No abstract text is available yet for this article.
October 19, 2016: Journal of Neurology
Aristide Merola, Alberto Romagnolo, Laura Rizzi, Mario Giorgio Rizzone, Maurizio Zibetti, Michele Lanotte, George Mandybur, Andrew P Duker, Alberto J Espay, Leonardo Lopiano
To determine the clinical and demographic correlates of persistent, remitting, and new-onset impulse control behaviors (ICBs) before and after subthalamic deep brain stimulation (STN-DBS) in Parkinson's disease (PD). We compared the pre- and post-surgical prevalence of ICBs, classified as impulse control disorders (ICD), dopamine dysregulation syndrome (DDS), and punding in 150 consecutive PD STN-DBS-treated patients and determined the association with motor, cognitive, neuropsychological, and neuropsychiatric endpoints...
October 19, 2016: Journal of Neurology
Myung Jun Lee, Jeong Hee Lee, Baik-Kyun Kim, Jae-Hyeok Lee, Young Min Lee, Seong-Jang Kim, Jin-Hong Shin, Myung-Jun Shin, Jae Woo Ahn, Suk Sung, Kyung-Un Choi, Dae Soo Jung, Na-Yeon Jung, William W Seeley, Gi Yeong Huh, Eun-Joo Kim
No abstract text is available yet for this article.
October 19, 2016: Journal of Neurology
Sebastian Frese, Jens A Petersen, Maria Ligon-Auer, Sandro Manuel Mueller, Violeta Mihaylova, Saskia M Gehrig, Veronika Kana, Elisabeth J Rushing, Evelyn Unterburger, Georg Kägi, Jean-Marc Burgunder, Marco Toigo, Hans H Jung
Huntington disease (HD) is a relentlessly progressive neurodegenerative disorder with symptoms across a wide range of neurological domains, including cognitive and motor dysfunction. There is still no causative treatment for HD but environmental factors such as passive lifestyle may modulate disease onset and progression. In humans, multidisciplinary rehabilitation has a positive impact on cognitive functions. However, a specific role for exercise as a component of an environmental enrichment effect has been difficult to demonstrate...
October 17, 2016: Journal of Neurology
Rita Cardoso, Isabel Guimarães, Helena Santos, Rita Loureiro, Josefa Domingos, Daisy de Abreu, Nilza Gonçalves, Serge Pinto, Joaquim Ferreira
Hypokinetic dysarthria is a common symptom in those with Parkinson's disease (PD); there is currently no standardized or validated tool for assessing speech in this population. To translate into European Portuguese (EP) the FDA-2 and perform a cultural adaptation followed by an evaluation of its psychometric properties in PD in a sample of people with PD in different stages of disease progression. Translation, back-translation, experts' analysis, pre-test and final version test were performed. The EP version of the FDA-2 was administered to 80 people with PD (PwP) with dysarthria, feasibility and acceptability, reliability (internal consistency and inter-rater reliability) and validity (face and convergent) were measured...
October 17, 2016: Journal of Neurology
Thomas Musacchio, Ann-Kathrin Zaum, Nurcan Üçeyler, Claudia Sommer, Nora Pfeifroth, Karlheinz Reiners, Erdmute Kunstmann, Jens Volkmann, Simone Rost, Stephan Klebe
Silver syndrome/SPG17 is a motor manifestation of mutations in the BSCL2 gene and usually presents as a complicated form of hereditary spastic paraplegia (HSP). We present clinical data, follow-up, and genetic results of seven patients with Silver syndrome/SPG17 including a family with a variable intrafamilial phenotype ranging from subclinical signs to a severe and rapidly progressing amyotrophic lateral sclerosis (ALS)-like phenotype. For molecular diagnosis of the family, we used the TruSight Exome sequencing panel consisting of 2761 genes...
October 13, 2016: Journal of Neurology
Eric J Kildebeck, Ram Narayan, Avindra Nath, Howard Weiner, Shin Beh, Peter A Calabresi, Lawrence Steinman, Eugene O Major, Teresa C Frohman, Elliot M Frohman
No abstract text is available yet for this article.
October 12, 2016: Journal of Neurology
Bryan P Fitzgerald, Kelly M Conn, Joanne Smith, Andrew Walker, Amy L Parkhill, James E Hilbert, Elizabeth A Luebbe, Richard T Moxley Iii
Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are the two most common adult muscular dystrophies and have progressive and often disabling manifestations. Higher levels of medication adherence lead to better health outcomes, especially important to patients with DM and FSHD because of their multisystem manifestations and complexity of care. However, medication adherence has not previously been studied in a large cohort of DM type 1 (DM1), DM type 2 (DM2), and FSHD patients. The purpose of our study was to survey medication adherence and disease manifestations in patients enrolled in the NIH-supported National DM and FSHD Registry...
October 12, 2016: Journal of Neurology
Magdalena Lang, Roi Treister, Anne Louise Oaklander
Small-fiber polyneuropathy (SFPN) causes non-specific symptoms including chronic pain, cardiovascular, gastrointestinal, and sweating complaints. Diagnosis is made from history and exam in patients with known risk factors such as diabetes, but objective test confirmation is recommended for patients without known risks. If tests confirm SFPN, and it is "initially idiopathic" (iiSFPN), screening for occult causes is indicated. This study's aim was to evaluate the 21 widely available, recommended blood tests to identify the most cost-effective ones and to learn about occult causes of iiSFPN...
October 11, 2016: Journal of Neurology
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