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https://www.readbyqxmd.com/read/28059798/sporadic-cases-with-novel-mutations-and-pedigree-in-hereditary-leukoencephalopathy-with-axonal-spheroids
#1
Liyong Wu, Jia Liu, Longze Sha, Xianling Wang, Jieying Li, Jing Dong, Jianping Jia
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant hereditary disease, featured by cerebral white matter degeneration with demyelination and axonal spheroids. We collected three gene-confirmed HDLS cases in our neurodegenerative clinic. Two HDLS cases were sporadic with novel mutations, while another case had a family history with previously described mutations. All three cases suffered memory problems with white matter lesions and pyramid signs. No obvious clinical differences were observed between sporadic and familial HDLS cases...
December 3, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28040046/diffusion-tensor-imaging-reveals-changes-in-the-adult-rat-brain-following-long-term-and-passive-moderate-acoustic-exposure
#2
Sherwin Abdoli, Leon C Ho, Jevin W Zhang, Celia M Dong, Condon Lau, Ed X Wu
This study investigated neuroanatomical changes following long-term acoustic exposure at moderate sound pressure level (SPL) under passive conditions, without coupled behavioral training. The authors utilized diffusion tensor imaging (DTI) to detect morphological changes in white matter. DTIs from adult rats (n = 8) exposed to continuous acoustic exposure at moderate SPL for 2 months were compared with DTIs from rats (n = 8) reared under standard acoustic conditions. Two distinct forms of DTI analysis were applied in a sequential manner...
December 2016: Journal of the Acoustical Society of America
https://www.readbyqxmd.com/read/28035181/functional-connectivity-of-basolateral-amygdala-neurons-carrying-orexin-receptors-and-melanin-concentrating-hormone-receptors-in-regulating-sociability-and-mood-related-behaviors
#3
Tae-Kyung Kim, Pyung-Lim Han
Chronic stress induces changes in neuronal functions in specific brain regions regulating sociability and mood-related behaviors. Recently we reported that stress-induced persistent upregulation of the neuropeptides orexin and melanin-concentrating hormone (MCH) in the basolateral amygdala (BLA) and the resulting activation of orexin receptors or MCH receptors within the BLA produced deficits in sociability and mood-related behaviors. In the present study, we investigated the neural targets that were innervated by BLA neurons containing orexin receptors or MCH receptors...
December 2016: Experimental Neurobiology
https://www.readbyqxmd.com/read/28018685/coexistence-of-factor-vii-deficiency-and-hereditary-spastic-paraplegia-in-two-siblings
#4
Hortensia De la Corte-Rodriguez, E Carlos Rodriguez-Merchan, M Teresa Alvarez-Roman, Ana L Hernandez-Moreno
We present the case of two patients aged 12 years and 7 years who were referred to our hospital for factor VII deficiency inherited in an autosomal recessive pattern, who had suffered from previous multiple joint haemarthroses. They presented with fine motor symptoms and difficulty in walking. During physical examination we observed neurological symptoms (general hypotonia, muscular hypotrophy, exaggerated tendon reflexes, pes cavus, and spastic gait). Given that the symptoms were not justified by the deficiency of coagulation factor VII and on suspicion of hereditary spastic paraplegia (HSP), tests were carried out...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/27999136/human-muse-cells-reconstruct-neuronal-circuitry-in-subacute-lacunar-stroke-model
#5
Hiroki Uchida, Kuniyasu Niizuma, Yoshihiro Kushida, Shohei Wakao, Teiji Tominaga, Cesario V Borlongan, Mari Dezawa
BACKGROUND AND PURPOSE: Multilineage-differentiating stress-enduring (muse) cells are endogenous nontumorigenic stem cells with pluripotency harvestable as pluripotent marker SSEA-3(+) cells from the bone marrow from cultured bone marrow-mesenchymal stem cells. After transplantation into neurological disease models, muse cells exert repair effects, but the exact mechanism remains inconclusive. METHODS: We conducted mechanism-based experiments by transplanting serum/xeno-free cultured-human bone marrow-muse cells into the perilesion brain at 2 weeks after lacunar infarction in immunodeficient mice...
December 20, 2016: Stroke; a Journal of Cerebral Circulation
https://www.readbyqxmd.com/read/27995067/brain-imaging-correlates-of-recovered-swallowing-after-dysphagic-stroke-a-fmri-and-dwi-study
#6
Paul Glad Mihai, Mareile Otto, Martin Domin, Thomas Platz, Shaheen Hamdy, Martin Lotze
Neurogenic dysphagia frequently occurs after stroke and deglutitive aspiration is one of the main reasons for subacute death after stroke. Although promising therapeutic interventions for neurogenic dysphagia are being developed, the functional neuroanatomy of recovered swallowing in this population remains uncertain. Here, we investigated 18 patients post-stroke who recovered from dysphagia using an event related functional magnetic resonance imaging (fMRI) study of swallowing. Patients were characterized by initial dysphagia score (mild to severe), lesion mapping, white matter fractional anisotropy (FA) of the pyramidal tracts, and swallowing performance measurement during fMRI scanning...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27987035/distant-recurrences-limit-the-survival-of-patients-with-thalamic-high-grade-gliomas-after-successful-resection
#7
Ryuta Saito, Toshihiro Kumabe, Masayuki Kanamori, Yukihiko Sonoda, Teiji Tominaga
The indications of surgery for thalamic high-grade gliomas are not well established. The present study investigated the outcome of 21 patients treated by surgery and reports the high incidence of distant recurrences including disseminations after successful removal. Twenty-one patients with thalamic high-grade gliomas not invading the pyramidal tract or midbrain underwent cytoreductive surgery at our institute from June 1997 to August 2015. Surgery was performed with the aid of a neuronavigation system, electrophysiological monitoring, and fluorescence navigation...
December 17, 2016: Neurosurgical Review
https://www.readbyqxmd.com/read/27980752/novel-compound-heterozygous-mutation-in-sacs-gene-leads-to-a-milder-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay-arsacs-in-a-finnish-family
#8
Johanna Palmio, Mikko Kärppä, Peter Baumann, Sini Penttilä, Jukka Moilanen, Bjarne Udd
Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a rare disorder outside Quebec causing childhood-onset cerebellar ataxia, peripheral neuropathy, and pyramidal tract signs. A Finnish family with milder form of ARSACS was found to harbor three mutations, p.E1100K, p.N1489S, and p.M1359T, in SACS gene. The mutations segregated with the disease.
December 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27978902/-myoclonus-and-it-s-associated-factors-in-creutzfeldt-jakob-disease
#9
J Liu, H X Wang, L P Li, X Hong, A H Liu, J Ye, L Song, J Zhang, J Li, N N Hu, Z C Sun, S R Li, Y H Yang, H Q Dong, Y P Wang
Objective: To analyze features and the related factors of myoclonus of 47 patients with probable or possible Creutzfeldt-Jakob disease (CJD). Methods: All patients diagnosed with"suspected CJD" and hospitalized in Xuanwu Hospital from January 2013 to November 2015 were included, and their clinical information and myoclonus features were analyzed. Age, clinical, course and manifestation, EEG, MRI, CSF14-3-3 features between myoclonus positive group and negative group were compared, and the correlation between myoclonus features and these factors was analyzed using Spearman correlation analyses...
December 6, 2016: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/27959795/improvement-of-pyramidal-tract-side-effect-prediction-using-a-data-driven-method-in-subthalamic-stimulation
#10
Clement Baumgarten, Yulong Zhao, Paul Sauleau, Cecile Malrain, Pierre Jannin, Claire Haegelen
OBJECTIVE: Subthalamic nucleus deep brain stimulation (STN DBS) is limited by the occurrence of pyramidal tract side effect (PTSE) induced by electrical activation of the pyramidal tract. Predictive models are needed to assist the surgeon during the electrode trajectory pre-planning. The objective of the study was to compare two methods of PTSE prediction based on clinical assessment of PTSE induced by STN DBS in patients with Parkinson's disease. METHODS: Two clinicians assessed PTSE postoperatively in 20 patients implanted for at least 3 months in the STN...
December 9, 2016: IEEE Transactions on Bio-medical Engineering
https://www.readbyqxmd.com/read/27916860/novel-pigt-variant-in-two-brothers-expansion-of-the-multiple-congenital-anomalies-hypotonia-seizures-syndrome-3-phenotype
#11
Nadia Skauli, Sean Wallace, Samuel C C Chiang, Tuva Barøy, Asbjørn Holmgren, Asbjørg Stray-Pedersen, Yenan T Bryceson, Petter Strømme, Eirik Frengen, Doriana Misceo
Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs...
November 29, 2016: Genes
https://www.readbyqxmd.com/read/27905390/-pr%C3%B0-gnosis-of-motor-function-recovery-in-ischemic-stroke-using-diffusion-tensor-mri
#12
M Yu Maksimova, T A Popova, R N Konovalov
AIM: To identify factors of motor recovery in ischemic stroke (IS) using diffusion tensor imaging (DTI). MATERIAL AND METHODS: Forty-seven patients with IS were studied within 1-2, 7-8, 14-15, 20-21 days after stroke. The fractional anisotropy (FA) values of the pyramidal tract were measured in the posterior limb of the internal capsule, cerebral peduncle and pons. Relative values of FA (rFA) ratio (rFA=FA affected side/FA unaffected side) were assessed as well...
2016: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/27903188/the-role-of-diffusion-tensor-imaging-tractography-for-gamma-knife-thalamotomy-planning
#13
João Gabriel Ribeiro Gomes, Alessandra Augusta Gorgulho, Amanda de Oliveira López, Crystian Wilian Chagas Saraiva, Lucas Petri Damiani, Anderson Martins Pássaro, João Victor Salvajoli, Ludmila de Oliveira Siqueira, Bernardo Peres Salvajoli, Antônio Afonso Ferreira De Salles
OBJECTIVE The role of tractography in Gamma Knife thalamotomy (GK-T) planning is still unclear. Pyramidal tractography might reduce the risk of radiation injury to the pyramidal tract and reduce motor complications. METHODS In this study, the ventralis intermedius nucleus (VIM) targets of 20 patients were bilaterally defined using Iplannet Stereotaxy Software, according to the anterior commissure-posterior commissure (AC-PC) line and considering the localization of the pyramidal tract. The 40 targets and tractography were transferred as objects to the GammaPlan Treatment Planning System (GP-TPS)...
December 2016: Journal of Neurosurgery
https://www.readbyqxmd.com/read/27867919/white-matter-change-revealed-by-diffusion-tensor-imaging-in-gliomas
#14
Young Il Won, Chun Kee Chung, Chi Heon Kim, Chul-Kee Park, Bang-Bon Koo, Jong-Min Lee, Hee-Won Jung
BACKGROUND: Tumor-related white matter change is detected at late stages with magnetic resonance imaging (MRI), when mass effect or prominent edema is present. We analyzed if diffusion tensor imaging (DTI) white matter change earlier than conventional MRI. METHODS: Twenty-six patients with gliomas (World Health Organization grade II, 5; grade III, 12; and grade IV, 9) within 2 cm from the posterior limb of the internal capsule (IC) were studied. Fifteen normal adults were enrolled as controls...
October 2016: Brain Tumor Research and Treatment
https://www.readbyqxmd.com/read/27857728/harnessing-neural-activity-to-promote-repair-of-the-damaged-corticospinal-system-after-spinal-cord-injury
#15
REVIEW
John H Martin
As most spinal cord injuries (SCIs) are incomplete, an important target for promoting neural repair and recovery of lost motor function is to promote the connections of spared descending spinal pathways with spinal motor circuits. Among the pathways, the corticospinal tract (CST) is most associated with skilled voluntary functions in humans and many animals. CST loss, whether at its origin in the motor cortex or in the white matter tracts subcortically and in the spinal cord, leads to movement impairments and paralysis...
September 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27857035/recovery-of-long-term-paresis-following-resection-of-who-grade-ii-gliomas-infiltrating-the-pyramidal-pathway
#16
Juan Martino, Hugo Caballero, Enrique M DE Lucas, Rousinelle DA Silva-Freitas, Carlos Velasquez, Elsa Gomez, Javier Vazquez-Bourgon, Alfonso Vázquez-Barquero
Recent publications had reported high rates of preoperative neurological impairments in WHO grade II gliomas (GIIG) that significantly affect the quality of life. Consequently, one step further in the analysis of surgical outcome in GIIG is to evaluate if surgery is capable to improve preoperative deficits. Here are reported two cases of GIIG infiltrating the primary motor cortex and pyramidal pathway that had a long-term paresis before surgery. Both patients were operated with intraoperative electrical stimulation mapping, with identification and preservation of the primary motor cortex and pyramidal tract...
February 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/27835968/a-case-of-rapid-onset-dystonia-parkinsonism-accompanied-by-pyramidal-tract-impairment
#17
Yanqiu Liu, Yan Lu, Xinqing Zhang, Shuping Xie, Tingting Wang, Tianwen Wu, Chaoyan Wang
BACKGROUND: Rapid-onset dystonia-parkinsonism (RDP) is a rare autosomal dominant disorder that is caused by mutations in the ATP1A3 gene and is characterized by an acute onset of asymmetric dystonia and parkinsonism. To date, fewer than 75 RDP cases have been reported worldwide. Clinical signs of pyramidal tract involvement have been reported in several RDP cases, and none of them included the Babinski sign. CASE PRESENTATION: We report a 24-year-old Chinese female with RDP who exhibited a strikingly asymmetric, predominantly dystonic movement disorder with a rostrocaudal gradient of involvement and parkinsonism...
November 11, 2016: BMC Neurology
https://www.readbyqxmd.com/read/27773835/levodopa-induced-morphologic-changes-of-prefrontal-pyramidal-tract-type-neurons-in-a-rat-model-of-parkinson-s-disease
#18
Haruo Nishijima, Tatsuya Ueno, Shinya Ueno, Fumiaki Mori, Yasuo Miki, Masahiko Tomiyama
Long-term administration of levodopa for Parkinson's disease is associated with various motor and non-motor complications. We examined the dendritic spine morphology of pyramidal tract-type neurons in the prefrontal cortex in a rat model of Parkinson's disease chronically treated with levodopa. Dendritic spines showed decreased density and increased average volume after dopamine denervation and levodopa treatment. These morphologic alterations suggest that the prefrontal neurons may maladaptively respond to excitatory input, which might be one of the mechanisms underlying various levodopa-induced complications in patients with Parkinson's disease...
October 20, 2016: Neuroscience Research
https://www.readbyqxmd.com/read/27765362/medicinal-herbs-oenanthe-javanica-blume-dc-casuarina-equisetifolia-l-and-sorghum-bicolor-l-moench-protect-human-cells-from-mpp-damage-via-inducing-fbxo7-expression
#19
Chiung-Mei Chen, I-Cheng Chen, Ying-Lin Chen, Te-Hsien Lin, Wan-Ling Chen, Chih-Ying Chao, Yih-Ru Wu, Yeah-Ting Lu, Cheng-Yu Lee, Hong-Chi Chien, Ting-Shou Chen, Guey-Jen Lee-Chen, Chi-Mei Lee
BACKGROUND: The F-box protein 7 (FBXO7) mutations have been identified in families with early-onset parkinsonism and pyramidal tract signs, and designated as PARK15. In addition, FBXO7 mutations were found in typical and young onset Parkinson's disease (PD). Evidence has also shown that FBXO7 plays an important role in the development of dopaminergic neurons and increased stability and overexpression of FBXO7 may be beneficial to PD. PURPOSE: We screened extracts of medicinal herbs to enhance FBXO7 expression for neuroprotection in MPP(+)-treated cells...
November 15, 2016: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/27759565/intramuscular-neurotrophin-3-normalizes-low-threshold-spinal-reflexes-reduces-spasms-and-improves-mobility-after-bilateral-corticospinal-tract-injury-in-rats
#20
Claudia Kathe, Thomas Haynes Hutson, Stephen Brendan McMahon, Lawrence David Falcon Moon
Brain and spinal injury reduce mobility and often impair sensorimotor processing in the spinal cord leading to spasticity. Here, we establish that complete transection of corticospinal pathways in the pyramids impairs locomotion and leads to increased spasms and excessive mono- and polysynaptic low threshold spinal reflexes in rats. Treatment of affected forelimb muscles with an adeno-associated viral vector (AAV) encoding human Neurotrophin-3 at a clinically-feasible time-point after injury reduced spasticity...
October 19, 2016: ELife
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