Neurology Commons^™

Epilepsy, Hippocampal Sclerosis And Febrile Seizures Linked By Common Genetic Variation Around Scn1a., Dalia Kasperaviciute, Claudia B Catarino, Mar Matarin, Costin Leu, Jan Novy, Anna Tostevin, Bárbara Leal, Ellen V S Hessel, Kerstin Hallmann, Michael S Hildebrand, Hans-Henrik M Dahl, Mina Ryten, Daniah Trabzuni, Adaikalavan Ramasamy, Saud Alhusaini, Colin P Doherty, Thomas Dorn, Jörg Hansen, Günter Krämer, Bernhard J Steinhoff, Dominik Zumsteg, Susan Duncan, Reetta K Kälviäinen, Kai J Eriksson, Anne-Mari Kantanen, Massimo Pandolfo, Ursula Gruber-Sedlmayr, Kurt Schlachter, Eva M Reinthaler, Elisabeth Stogmann, Fritz Zimprich, Emilie Théâtre, Colin Smith, Terence J O'Brien, K Meng Tan, Slave Petrovski, Angela Robbiano, Roberta Paravidino, Federico Zara, Pasquale Striano, Michael R Sperling, Russell J Buono, Hakon Hakonarson, João Chaves, Paulo P Costa, Berta M Silva, António M Da Silva, Pierre N E De Graan, Bobby P C Koeleman, Albert Becker, Susanne Schoch, Marec Von Lehe, Philipp S Reif, Felix Rosenow, Felicitas Becker, Yvonne Weber, Holger Lerche, Karl Rössler, Michael Buchfelder, Hajo M Hamer, Katja Kobow, Roland Coras, Ingmar Blumcke, Ingrid E Scheffer, Samuel F Berkovic, Michael E. Weale, Uk Brain Expression Consortium, Norman Delanty, Chantal Depondt, Gianpiero L Cavalleri, Wolfram S Kunz, Sanjay M Sisodiya

Department of Neurology Faculty Papers

Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seizures in mesial temporal lobe epilepsy with hippocampal sclerosis are typically drug-resistant, and mesial temporal lobe epilepsy with hippocampal sclerosis is frequently associated with important co-morbidities, mandating the search for better understanding and treatment. The cause of mesial temporal lobe epilepsy with hippocampal sclerosis is unknown, but there is an association with childhood febrile seizures. Several rarer epilepsies featuring febrile seizures are caused by mutations in SCN1A, which encodes a brain-expressed sodium channel subunit targeted by many anti-epileptic drugs. We undertook a genome-wide association …

Left Atrial Volumes And Associated Stroke Subtypes., Quratulain Shaikh,, Bilal Ahmed, Maryam Ahmed,, Jamal Hussain Mahar,, Masood Ahmad,, Ayesha Ahmed,, Farzin Majeed, Fariha Sadiq Ali,, Maria Khan, Ayeesha Kamran Kamal

Department of Medicine

Background: Cardio embolism and cerebrovascular atherosclerosis are two major mechanisms of stroke. Studies investigating associations between advanced echocardiographic parameters and stroke mechanisms are limited.

Methods: This study is a standardized review of 633 patients admitted to the stroke service of a tertiary care hospital following a standardized stroke investigation and management pathway. Stroke subtypes were characterized using the Causative Classification System, using the hospitals online radiologic archival system with CCS certified stroke investigators. Patients with two mechanisms were excluded.

Results: Patients with cardioembolic stroke had a higher proportion of atrial fibrillation (p < 0.001), acute myocardial infarction (p < 0.001) and ischemic heart disease (p < 0.001). On electrocardiogram (ECG) and transthoracic Echo (TTE), patients with cardioembolic stroke had a greater atrial fibrillation (p < .00), left ventricular thrombus (p < .00), left ventricular ejection fraction <30% (p >< .00) and global hypokinesia (p < .00) Patients with cardioembolic stroke had higher mean left atrial volume indices (LAVi) (p < 0.001), mean left ventricular mass indices (LVMi) (p < 0.05) and mean left atrial diameters (LAD) (p < 0.05). At LAVi of 29–33 ml/m2 , the risk of atherothrombotic stroke increased. The risk of cardioembolic stroke increased with LAVi of 34 ml/m2 and above.

Conclusion: Left atrial volume indices may be linked …

Load: A Pilot Study Of The Safety Of Loading Of Aspirin & Clopidogrel In Acute Ischaemic Stroke And Transient Ischaemic Attack. Is The Loading Dose Of Aspirin And Clopidogrel A Good Alternative For Patients With Acute Ischaemic Stroke And Tia? How This Will Impact Our Clinical Practice?, Fauzia Nomani,, Ayeesha Kamran Kamal

Department of Medicine

No abstract provided.

Neuroprotective Effect Of Arctigenin Via Upregulation Of P-Creb In Mouse Primary Neurons And Human Sh-Sy5y Neuroblastoma Cells., Nan Zhang, Qingping Wen, Lu Ren, Wenbo Liang, Yang Xia, Xiaodan Zhang, Dan Zhao, Dong Sun, Yv Hu, Haiguang Hao, Yaping Yan, Guangxian Zhang, Jingxian Yang, Tingguo Kang

Department of Neurology Faculty Papers

Arctigenin (Arc) has been shown to act on scopolamine-induced memory deficit mice and to provide a neuroprotective effect on cultured cortical neurons from glutamate-induced neurodegeneration through mechanisms not completely defined. Here, we investigated the neuroprotective effect of Arc on H89-induced cell damage and its potential mechanisms in mouse cortical neurons and human SH-SY5Y neuroblastoma cells. We found that Arc prevented cell viability loss induced by H89 in human SH-SY5Y cells. Moreover, Arc reduced intracellular beta amyloid (Aβ) production induced by H89 in neurons and human SH-SY5Y cells, and Arc also inhibited the presenilin 1(PS1) protein level in neurons. In addition, …

Vitamin B12 Supplementation In Trea Ting Major Depressive Disorder: A Randomized Controlled Trial, Ehsan Ullah Syed, Mohammad Wasay, Safia Awan

Department of Medicine

Recent literature has identified links between vitamin B12 deficiency and depression. We compared the clinical response of SSRI-monotherapy with that of B12-augmentation in a sample of depressed patients with low normal B12 levels who responded inadequately to the first trial with the SSRIs. Methods: Patients with depression and low normal B12 levels were randomized to a control arm (antidepressant only) or treatment arm (antidepressants and injectable vitamin B12 supplementation). Results: A total of 199 depressed patients were screened. Out of 73 patients with low normal B12 levels 34 (47%) were randomized to the treatment group while 39 (53%) …

My Patient Has Carotid Stenosis. Should He Get Stenting Or Endarterectomy?, Quratulain Shaikh,, Ayeesha Kamran Kamal

Department of Medicine

No abstract provided.

Immunopathology Of Cd4+ T Cell-Mediated Autoimmune Responses To Central Nervous System Antigens: Role Of Il-16, Harley Y. Tse, Dusanka S. Skundric, William W. Cruikshank, Paul C. Montgomery, Robert P. Lisak

Neurology Faculty Publications

Multiple sclerosis (MS) is a chronic, inflammatory, demyelinating and degenerative disease of the central nervous system (CNS). While etiology of the disease remains unknown, genetic susceptibility and autoimmune mechanisms in the initiation and progression of the disease have been strongly suggested. Experimental autoimmune encephalomyelitis (EAE) is commonly used to study immune regulation of MS. Infiltration by CD4⁺ T cells, through blood-brain barrier (BBB), precedes the onset and relapses of MS. CNS migration and homing patterns of T cells are tightly synchronized by astrocyte and microglia derived cytokines and chemokines. Autoimmune, CNS antigenreactive, infiltrating T cells produce and locally release …

Analysis Of Lmnb1 Duplications In Autosomal Dominant Leukodystrophy Provides Insights Into Duplication Mechanisms And Allele-Specific Expression, Elisa Giorgio, Harshvardhan Rolyan, Laura Kropp, Anish Baswanth Chakka, Svetlana Yatsenko, Adeline Vanderver, +31 Additional Authors

Neurology Faculty Publications

Autosomal dominant leukodystrophy (ADLD) is an adult onset demyelinating disorder that is caused by duplications of the lamin B1 (LMNB1) gene. However, as only a few cases have been analyzed in detail, the mechanisms underlying LMNB1 duplications are unclear. We report the detailed molecular analysis of the largest collection of ADLD families studied, to date. We have identified the minimal duplicated region necessary for the disease, defined all the duplication junctions at the nucleotide level and identified the first inverted LMNB1 duplication. We have demonstrated that the duplications are not recurrent; patients with identical duplications …

Safety Of Untreated Autologous Cranioplasty After Extracorporeal Storage At -26 Degrees Celsius, Muhammad Zubair Tahir, Muhammad Shahzad Shamim, Zain-Ul-Abdeen Sobani, Syed Nabeel Zafar, Mohsin Qadeer, Muhammad Ehsan Bari

Section of Neurosurgery

Background: Given the improved survival of patients requiring decompressive craniectomies, the frequency of subsequent cranioplasties are on the rise. The most feared complication of autologous cranioplasty is infection and one method for reducing the rate of infection, is to store the bone flaps at subnormal temperatures. However, to date there is no defined temperature for flap storage and temperature ranges from - 18 to - 83°C have been described in literature. Considering our limited resources it has been the practice at our center to store bone flaps at - 26°C. In this study, we have retrospectively reviewed our practice and …

Surgical Management Of Traumatic Extra Dural Hematoma In Children: Experiences And Analysis From 24 Consecutively Treated Patients In A Developing Country, Muhammad Babar Khan, Muhammad Riaz, Gohar Javed, Fauzan Alam Hashmi, Maryam Sanaullah, Syed Ijlal Ahmed

Medical College Documents

Background: Children with epidural hematoma (EDH) present differently than adults. The outcome of treatment is also different. We aim to report our experiences with EDH in pediatric age group in terms of mode of injury, presenting features, management, and outcomes. We also aim to identify different prognostic indicators in pediatric patients with EDH.
Methods: We prospectively collected data from 24 consecutively surgically treated pediatric patients. The data collected included presenting features, radiological imaging, details of management, and outcomes. Descriptive analysis was performed and different variables were tested for any statistical significance with Glasgow Outcome Score (GOS).
Results: There were 19 …

Hippocampal Functional Connectivity Patterns During Spatial Working Memory Differ In Right Versus Left Temporal Lobe Epilepsy., Gaelle Eve Doucet, Karol Osipowicz, Ashwini Sharan Md, Michael R Sperling, Joseph I Tracy

Department of Neurology Faculty Papers

Temporal lobe epilepsy (TLE), affecting the medial temporal lobe, is a disorder that affects not just episodic memory but also working memory (WM). However, the exact nature of hippocampal-related network activity in visuospatial WM remains unclear. To clarify this, we utilized a functional connectivity (FC) methodology to investigate hippocampal network involvement during the encoding phase of a functional magnetic resonance imaging (fMRI) visuospatial WM task in right and left TLE patients. Specifically, we assessed the relation between FC within right and left hippocampus-seeded networks, and patient performance (rate of correct responses) during the encoding phase of a block span WM …

Single-Trial Decoding Of Auditory Novelty Responses Facilitates The Detection Of Residual Consciousness, J. R. King, F. Faugeras, A. Gramfort, Aaron Schurger, I. El Karoui, J. D. Sitt, B. Rohaut, C. Wacongne, E. Labyt, T. Bekinschtein, L. Cohen, L. Naccache, S. Dehaene

Psychology Faculty Articles and Research

Detecting residual consciousness in unresponsive patients is a major clinical concern and a challenge for theoretical neuroscience. To tackle this issue, we recently designed a paradigm that dissociates two electro-encephalographic (EEG) responses to auditory novelty. Whereas a local change in pitch automatically elicits a mismatch negativity (MMN), a change in global sound sequence leads to a late P300b response. The latter component is thought to be present only when subjects consciously perceive the global novelty. Unfortunately, it can be difficult to detect because individual variability is high, especially in clinical recordings. Here, we show that multivariate pattern classifiers can extract …

Giant Cell Tumour Of The Sacrum: Function-Preserving Surgery With Extended Curettage And Ilio-Lumbar Fusion, Riaz Hussain Lakhdawala, Tashfeen Ahmad, Ather Enam

Section of Orthopaedic Surgery

Giant cell tumours of the sacrum pose a unique therapeutic challenge due to the inaccessibility of the tumour, significant intra-operative blood loss from extensive vascularity, high rate of local recurrence with conservative surgery, and loss of neurological function and mechanical instability with en-bloc excision. We present a case where successful outcome was achieved by tailoring treatment in consideration of the above issues. A 28 year old male diagnosed on biopsy to have giant cell tumour of the sacrum presented to us with low-back pain, left-sided S1 radiculopathy, ankle weakness and urinary incontinence. MRI showed a tumour involving the S1 and …

How Effective Is The Local Anesthetic Infiltration Of Pin Sites Prior To Application Of Head Clamps: A Prospective Observational Cohort Study Of Hemodynamic Response In Patients Undergoing Elective Craniotomy, Ayesha Arshad, Muhammad Shahzad Shamim, Muhammad Waqas, Hina Enam, Syed Ather Enam

Section of Neurosurgery

Background: Use of Mayfield clamps is associated with potentially hazardous hemodynamic effects. Use of local anesthetic infiltration has yielded varying results in blunting of this response. The authors' objective was to study the effect of lidocaine with adrenaline infiltration at Mayfield pin sites on hemodynamic response in comparison with no intervention.
Methods: This was a prospective cohort study conducted at a tertiary care center from January 2012 to July 2012. Patents undergoing elective craniotomies over the study period were included and divided in two groups, Group A received lidocaine infiltration of the pin sites prior to insertion, while Group B …

Role Of Anterior Decompression With Internal Fixation In Dorsal Spine Tuberculosis, Zahid Khan, Khalid Khanzada, Mumtaz Ali,, Shahid Ayub

Pakistan Journal of Neurological Sciences (PJNS)

This observational study was conducted in the Department of Neurosurgery Lady Reading HospitalPeshawar from July 2010 to June 2012 (2 years).There were 38 patients with dorsal spine tuberculosis who underwent anterior decompression and fusion using anterior spinal instrumentation and allograft replacement. We included those patients in our study, who undergone anterior decompression with internal fixation for dorsal spine tuberculosis, of both genders irrespective of their age. We excluded those patients who were unfit for surgery, treated conservatively, involved spine other than dorsal spine or undergone procedure other than anterior approach for Carrie’s spine.Clinical outcome of the patients was assessed using …

Neurological Care In Afghanistan, Esmatullah Hamed

Pakistan Journal of Neurological Sciences (PJNS)

Afghanistan is struggling to recover from more than 3 decades of conflict, displacement, and destruction of its infrastructure. The population of Afghanistan is around 31,108,077 (July 2013 est.), which includes the 2.7 million Afghan refugees the population of Afghanistan is increasing rapidly. Afghanistan has a predominantly young population, where almost 50 percent is less than 17.9 years of age, the proportion of population under 17.9 is among the highest in the world and significantly higher than that of neighboring countries.

Recumbent Syncope Mimicking Nocturnal Seizures, Maria Siddiqi, S. Nizam Ahmed

Pakistan Journal of Neurological Sciences (PJNS)

A fifty seven year old man presented to the emergency at the University hospital with a 3 month history of episodes of arousals from sleep with groaning and deviation of head to his right side. These were followed by a period of “confusion” that lasted for a “couple of minutes”. He had a witnessed “convulsion” in the hospital during this last visit and was loaded with one gram of phenytoin. A computed tomography (CT) scan of the head three months ago was reported as normal. Neurology was consulted for further investigations and long-term management

An Unusual Presentation Of Neurononopathic Gauchers Disease., Prem Chand, Shahnaz Ibrahim, Bushra Habib, Farida Jan

Pakistan Journal of Neurological Sciences (PJNS)

A six years old male child presented with tremor, ataxia, speech apraxia, supranuclear gaze palsy and hepatosplenomegaly. There was no history of seizures and psycho-cognitive abnormalities. The clinical and bone marrow findings were consistent with Gaucher's disease type 3.

KEY WORDS: Gauchers disease, Enzyme replacement therapy, Gene therapy, Bone marrow transplant.

Dementia In Pakistan: National Guidelines For Clinicians, Arsalan Ahmad, Khurram Owais, Maimoona Siddiqui, Kayser Mamun, Faiza Rao, Abdul Wahab Yousufzai

Pakistan Journal of Neurological Sciences (PJNS)

Dementia refers to a range of disorders characterized by declining memory, multiple cognitive deficits and eventual mortality due to progressive and irreversible brain damage¹. Disease entities comprising dementia characteristically affect mainly the geriatric population. Together, they constitute a major component of global disease burden in general and geriatric disease burden in particular². In 2005, it was estimated that 24.3 million people in the world were living with dementia; 4.6 million cases have been added each year ever since³. Overall, dementia contributes 11.3% of years of life lived with disability, making it a major contributor …

Dementia – The Next Impending Epidemic Knocking On Our Door – Are We Ready?, Ismail A. Khatri, Mohammad Wasay

Pakistan Journal of Neurological Sciences (PJNS)

Late-onset dementias are life-shortening diseases of largely unknown cause. Predictions of the number of persons living with dementia by 2050 have spawned alarming headlines forecasting a “tsunami” of dementia cases that will overwhelm families and health care systems and impose unbearable economic burdens [Whalley].