Read by QxMD icon Read


Daniel J Merk, Jasmin Ohli, Natalie D Merk, Venu Thatikonda, Sorana Morrissy, Melanie Schoof, Susanne N Schmid, Luke Harrison, Severin Filser, Julia Ahlfeld, Serap Erkek, Kaamini Raithatha, Thomas Andreska, Marc Weißhaar, Michael Launspach, Julia E Neumann, Mehdi Shakarami, Dennis Plenker, Marco A Marra, Yisu Li, Andrew J Mungall, Richard A Moore, Yussanne Ma, Steven J M Jones, Beat Lutz, Birgit Ertl-Wagner, Andrea Rossi, Rabea Wagener, Reiner Siebert, Andreas Jung, Charles G Eberhart, Boleslaw Lach, Michael Sendtner, Stefan M Pfister, Michael D Taylor, Lukas Chavez, Marcel Kool, Ulrich Schüller
Recurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of the cerebellum, the primary site of origin of SHH MB. Our data reveal that loss of Crebbp in cerebellar granule neuron progenitors (GNPs) during embryonic development of mice compromises GNP development, in part by downregulation of brain-derived neurotrophic factor (Bdnf)...
March 9, 2018: Developmental Cell
Elan D Louis, James H Meyers, Ashley D Cristal, Ruby Hickman, Pam Factor-Litvak
BACKGROUND: Endophenotypes are measurable clinical characteristics that may be present in individuals with increased risk for disease (e.g., unaffected family members). Endophenotypes are useful; they may clarify diagnosis in genetic studies and foster the development of animal models. In recent years, problems with balance and mild gait ataxia have been associated with essential tremor (ET). We compared gait and balance of first-degree relatives of ET cases (FD-ET) to that of age-matched controls (Co)...
March 13, 2018: Parkinsonism & related Disorders
Catherine J Stoodley, Anila M D'Mello, Jacob Ellegood, Vikram Jakkamsetti, Pei Liu, Mary Beth Nebel, Jennifer M Gibson, Elyza Kelly, Fantao Meng, Christopher A Cano, Juan M Pascual, Stewart H Mostofsky, Jason P Lerch, Peter T Tsai
In the version of this article initially published, the Simons Foundation was missing from the list of sources of support to P.T.T. in the Acknowledgments. The error has been corrected in the HTML and PDF versions of the article.
March 16, 2018: Nature Neuroscience
Adam Nathan Wallace, Mudassar Kamran, Thomas P Madaelil, Yasha Kayan, Joshua W Osbun, Anil K Roy, Josser E Delgado Almandoz, Christopher J Moran, Brian Howard, Junaid Yasin, Jonathan A Grossberg
No abstract text is available yet for this article.
March 13, 2018: World Neurosurgery
Marcelo D Vilela, Uedson Tazinaffo
Various mixed associations between arteriovenous malformations, cavernous malformations, developmental venous anomalies and capillary telangiectasias have been described and a common pathophysiological event has been suggested to be present, although yet to be elucidated. We depict herein the imaging features of a patient who presented with a spontaneous cerebellar hemorrhage, in whom radiological studies demonstrated a pontine telangiectasia, a brainstem/cerebellar developmental venous anomaly and a cerebellar proliferative angiopathy...
March 13, 2018: World Neurosurgery
Lara M Wierenga, Marieke G N Bos, Elisabeth Schreuders, Ferdi Vd Kamp, Jiska S Peper, Christian K Tamnes, Eveline A Crone
The onset of adolescence in humans is marked by hormonal changes that give rise to secondary sexual characteristics, noted as puberty. It has, however, proven challenging to unravel to what extent pubertal changes may have organizing effects on the brain beyond chronological age, as reported in animal studies. The present longitudinal study aimed to characterize the unique effects of age and puberty on subcortical brain volumes and included three waves of data collection at two-year intervals and 680 T1-weighted MRI scans of 271 participants (54% females) aged between 8 and 29 years old...
March 8, 2018: Psychoneuroendocrinology
Shinji Kakei, Takahiro Ishikawa, Jongho Lee, Takeru Honda, Donna S Hoffman
BACKGROUND: In order to optimize outcomes of novel therapies for cerebellar ataxias (CAs), it is desirable to start these therapies while declined functions are restorable: i.e. while the so-called cerebellar reserve remains. OBJECTIVE: In this mini-review, we tried to define and discuss the cerebellar reserve from physiological and morphological points of view. METHOD: The cerebellar neuron circuitry is designed to generate spatiotemporally organized outputs, regardless of the region...
March 15, 2018: CNS & Neurological Disorders Drug Targets
Martha L Streng, Laurentiu S Popa, Timothy J Ebner
It is hypothesized that the cerebellum implements a forward internal model that transforms motor commands into predictions about upcoming movements. The predictions are compared with sensory feedback to generate sensory prediction errors critical to controlling movements. The simple spike firing of cerebellar Purkinje cells both lead and lag movement consistent with representations of motor predictions and sensory feedback. This study tests whether this leading and lagging modulation provides the prediction and sensory feedback necessary to compute sensory prediction errors...
March 15, 2018: Nature Communications
D Mata-Mbemba, M Zapotocky, S Laughlin, M D Taylor, V Ramaswamy, C Raybaud
BACKGROUND AND PURPOSE: Molecular grouping of medulloblastoma correlates with prognosis and supports the therapeutic strategy. We provide our experience with the imaging features of primary and metastatic disease in relation to the molecular groups. MATERIALS AND METHODS: One hundred nineteen consecutive patients (mean age, 7.3 ± 3.8 years at diagnosis; male, 79 [66.4%]) with a confirmed diagnosis of medulloblastoma and interpretable pretreatment MRIs were retrieved from our data base from January 2000 to December 2016...
March 15, 2018: AJNR. American Journal of Neuroradiology
Gözde Yeşil, Ayşe Aralaşmak, Enes Akyüz, Dilara İçağasıoğlu, Türkan Uygur Şahin, Yavuz Bayram
BACKGROUND: The KCNMA1 gene encodes the α-subunit of the large conductance, voltage and calcium-sensitive potassium channel (BK channels) which plays an important role in neuronal excitability. Heterozygous mutations in KCNMA1 were firstly described in a large family with generalized epilepsy and paroxysmal nonkinesigenic dyskinesia. Recently, homozygous KCNMA1 mutations were reported to cause a phenotype of cerebellar atrophy, developmental delay and seizures. CASE REPORT: Herein; we report a patient with a novel homozygous truncating mutation in KCNMA1 (p...
March 16, 2018: Balkan Medical Journal
Didem Yücel-Yılmaz, Emrah Yücesan, Dilek Yalnızoğlu, Kader Karlı Oğuz, Mahmut Şamil Sağıroğlu, Uğur Özbek, Esra Serdaroğlu, Başar Bilgiç, Sevim Erdem, Sibel Aylin Uğur İşeri, Haşmet Hanağası, Hakan Gürvit, Rıza Köksal Özgül, Ali Dursun
Hereditary spastic paraplegias (HSPs) are a group of genetic disorders resulting in pyramidal tract impairment, predominantly in lower limbs. KIF1C gene has recently been identified as one of the genetic causes of HSP and associated with pure or complicated HSP. We present three patients with complicated HSP from two unrelated families, who had early onset progressive cerebellar signs and developed pyramidal tract signs during follow-up. Whole exome sequencing in these patients followed by segregation analysis identified novel truncating KIF1C mutations (c...
March 12, 2018: Brain & Development
Stefania Squadrone, Paola Brizio, Cecilia Mancini, Maria Cesarina Abete, Alfredo Brusco
Spinocerebellar ataxia type 2 (SCA2) is a neurological disorder characterized by cerebellar dysfunction. The possible association between metals and neurodegenerative diseases is under constant investigation, with particular focus on their involvement in oxidative stress and their potential role as biomarkers of these pathologies. Whole blood samples of SCA2 patients and of healthy individuals were subjected to multi-elemental analysis by inductively coupled plasma-mass spectrometry (ICP-MS). Reduced levels of manganese and copper were found in SCA2 patients, while zinc and vanadium concentrations were significantly higher in patients compared to controls...
May 2018: Journal of Trace Elements in Medicine and Biology
Richard Lindqvist, Chaitanya Kurhade, Jonathan D Gilthorpe, Anna K Överby
BACKGROUND: Flaviviruses are a group of diverse and emerging arboviruses and an immense global health problem. A number of flaviviruses are neurotropic, causing severe encephalitis and even death. Type I interferons (IFNs) are the first line of defense of the innate immune system against flavivirus infection. IFNs elicit the concerted action of numerous interferon-stimulated genes (ISGs) to restrict both virus infection and replication. Viperin (virus-inhibitory protein, endoplasmic reticulum-associated, IFN-inducible) is an ISG with broad-spectrum antiviral activity against multiple flaviviruses in vitro...
March 15, 2018: Journal of Neuroinflammation
Santosh R Alluri, Patrick J Riss
We report the synthesis, radiosynthesis, and characterization of a radioligand for poly(ADP-ribose) polymerase (PARP). PARP is of central importance in cell homeostasis, neuroplasticity, and neurodegeneration in the brain. A radiolabeled PARP inhibitor was developed and used for autoradiographic quantification of PARP protein concentration in wild-type and transgenic rodent brains ex vivo in high resolution. The binding of [3 H]rucaparib was found to be confined to PARP-expressing domains, for example, cerebellar cortex or hippocampal regions in both models...
March 16, 2018: ACS Chemical Neuroscience
Kevin C Kemp, Rimi Dey, Johan Verhagen, Neil J Scolding, Maria M Usowicz, Alastair Wilkins
Bone marrow-derived cells are known to infiltrate the adult brain and fuse with cerebellar Purkinje cells. Histological observations that such heterotypic cell fusion events are substantially more frequent following cerebellar injury suggest they could have a role in the protection of mature brain neurons. To date, the possibility that cell fusion can preserve or restore the structure and function of adult brain neurons has not been directly addressed; indeed, though frequently suggested, the possibility of benefit has always been rather speculative...
March 14, 2018: Acta Neuropathologica
Derek Kellar, Sharlene Newman, Franco Pestilli, Hu Cheng, Nicholas L Port
Objectives: Though sub-concussive impacts are common during contact sports, there is little consensus whether repeat blows affect brain function. Using a "lifetime exposure" rather than acute exposure approach, we examined oculomotor performance and brain activation among collegiate football players and two control groups. Our analysis examined whether there are group differences in eye movement behavioral performance and in brain activation during smooth pursuit. Methods: Data from 21 off-season Division I football "starters" were compared with a) 19 collegiate cross-country runners, and b) 11 non-athlete college students who were SES matched to the football player group (total N  = 51)...
2018: NeuroImage: Clinical
Jiayue Cai, Soojin Lee, Fang Ba, Saurabh Garg, Laura J Kim, Aiping Liu, Diana Kim, Z Jane Wang, Martin J McKeown
Falls and balance difficulties remain a major source of morbidity in Parkinson's Disease (PD) and are stubbornly resistant to therapeutic interventions. The mechanisms of gait impairment in PD are incompletely understood but may involve changes in the Pedunculopontine Nucleus (PPN) and its associated connections. We utilized fMRI to explore the modulation of PPN connectivity by Galvanic Vestibular Stimulation (GVS) in healthy controls ( n = 12) and PD subjects even without overt evidence of Freezing of Gait (FOG) while on medication ( n = 23)...
2018: Frontiers in Neuroscience
Amara Gul, Sadia Zafar
The objective of the current study was to compare cognitive flexibility and emotion regulation between childhood survivors of Acute Lymphoblastic Leukaemia (ALL) and healthy control subjects. Twenty-five childhood survivors of ALL treated with intrathecal chemotherapy between 2013 to 2016 from Shaukat Khanum Memorial Cancer Hospital, Children Hospital and Jinnah Hospital Lahore and twenty-five healthy demographically matched children (control group) participated in the study. Participants performed task switching experiment as a measure of cognitive flexibility and emotion regulation questionnaire for children and adolescents...
March 2018: JPMA. the Journal of the Pakistan Medical Association
David T Fernandes Cabral, Georgios A Zenonos, Maximiliano Nuñez, Pinar Celtikci, Carl Snyderman, Eric Wang, Paul A Gardner, Juan C Fernandez-Miranda
BACKGROUND: The endoscopic endonasal approach (EEA) has been proposed as a potential alternative for ventral brainstem lesions. The surgical anatomy, feasibility, and limitations of the EEA for intrinsic brainstem lesions are still poorly understood. OBJECTIVE: To describe the surgical planning, anatomy, and technique of an intrinsic pontine glioma operated via EEA. METHODS: Six-human brainstems were prepared for white matter microdissection...
March 12, 2018: Operative Neurosurgery (Hagerstown, Md.)
Wataro Tsuruta, Tetsuya Yamamoto, Go Ikeda, Masayuki Sato, Yoshiro Ito, Tomoji Takigawa, Aiki Marushima, Yasunobu Nakai, Yuji Matsumaru, Akira Matsumura
BACKGROUND: Endovascular surgery for vertebral artery dissections (VADs) carries the risk of spinal cord infarction (SCI). Although SCI in the region of the anterior spinal artery (ASA) has been reported, SCI in the region of the posterior spinal artery (PSA) is rare. OBJECTIVE: To investigate PSA infarction after endovascular surgery for VAD. METHODS: Infarction in the region of the PSA after endovascular surgery for VADs carried out in consecutive 21 cases was investigated...
March 9, 2018: Operative Neurosurgery (Hagerstown, Md.)
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"