Nervous System Diseases Commons^™

Billboards: An Old – But Also New – Way Of Projecting The Huntington's Cause, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Huntington's Disease--A Review, Christen Dunn

The Kabod

Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death. In this disease, the huntingtin gene on chromosome four codes for an abnormally elongated repeating CAG polypeptide sequence. This mutation causes an atrophy in the brain that translates into decreasing control of movements and other aspects of cognition. To date, there is no cure for Huntington’s disease, but there are treatments for many symptoms that accompany the disease. Even still, there are promising new methods that may be more beneficial to patients in the future.

Using A Tailored Health Information Technology- Driven Intervention To Improve Health Literacy And Medication Adherence In A Pakistani Population With Vascular Disease (Talking Rx) - Study Protocol For A Randomized Controlled Trial, Ayeesha Kamran Kamal, Abdul Muqeet, Kashfa Farhat, Wardah Khalid, Anum Jamil, Ambreen Gowani, Aliya Amin Muhammad, Fabiha Zaidi, Danyal Khan, Touseef Elahi, Shahrukh Sharif, Syedah Saira Bokhari, Nasir Rahman, Fateh Ali Tipoo Sultan, Saleem Sayani, Salim S. Virani

Section of Internal Medicine

Background: Vascular disease, manifesting as myocardial infarction and stroke, is a major cause of morbidity and mortality, especially in low- and middle-income countries. Current estimates are that only one in six patients have good adherence to medications and very few have sufficient health literacy. Our aim is to explore the effectiveness and acceptability of Prescription Interactive Voice Response (IVR) Talking Prescriptions (Talking Rx) and SMS reminders in increasing medication adherence and health literacy in Pakistani patients with vascular disease.
Methods: This is a randomized, controlled, single center trial. Adult participants, with access to a cell phone and a history of …

Chief Huntington’S Disease Drug Hunter: ‘Every Confidence First Treatments' In The Works, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

The Little Things That Are Really Big: Caregiving In Families With Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Defeating Huntington’S Disease Starts With Taking Care Of Yourself And Joining Enroll-Hd, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

A Key Huntington’S Disease Trial Remedy Gets Orphan Drug Designation, As Yet Another Young Life Is Cut Short, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Cyclophosphamide For Suspected Primary Angiitis Of The Central Nervous System In A Patient With Human Immunodeficiency Virus: A Case Report, Martha M. Rumore, Samantha Su, Jake Pellinen

Touro College of Pharmacy (New York) Publications and Research

Introduction: Central nervous system (CNS) vasculitis is rare, including in human immunodeficiency virus (HIV), occurring in less than 1% of patients. Systemic vasculitis affecting the CNS is termed secondary CNS vasculitis, whereas primary CNS vasculitis, referred to as primary angiitis of the CNS (PACNS) refers to an extremely rare disease specifically confined to the CNS. Only some cases of PACNS in HIV patients have been reported in literature.

Case Report: We report a case of a 46-year-old female with HIV who developed probable primary CNS vasculitis, which was treated with intravenous cyclophosphamide and glucocorticoids for both induction and …

The Clinical Outcome Study For Dysferlinopathy, Elizabeth Harris, Catherine Bladen, Anna Mayhew, Meredith James, Karen Bettinson, Avital Cnaan, The Jain Cos Consortium

Pediatrics Faculty Publications

Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy.

Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived from their baseline clinical and functional assessments.

Results: There is a high degree of variability in disease onset, pattern of weakness, and rate of progression. No factor, such as mutation class, protein expression, or age at onset, accounted for this variability. Among patients with clinical diagnoses of Miyoshi …

Management Of Charcot–Marie–Tooth Disease: Improving Long-Term Care With A Multidisciplinary Approach, Donald Mccorquodale, Evan M. Pucillo, Nicholas E. Johnson

Physical Therapy Collection

Charcot–Marie–Tooth (CMT) disease is the most common inherited neuropathy and one of the most common inherited diseases in humans. The diagnosis of CMT is traditionally made by the neurologic specialist, yet the optimal management of CMT patients includes genetic counselors, physical and occupational therapists, physiatrists, orthotists, mental health providers, and community resources. Rapidly developing genetic discoveries and novel gene discovery techniques continue to add a growing number of genetic subtypes of CMT. The first large clinical natural history and therapeutic trials have added to our knowledge of each CMT subtype and revealed how CMT impacts patient quality of life. In …

Clinical Assessment Of Fatigability In Multiple Sclerosis: A Shift From Perception To Performance., Bryant A Seamon, Michael O. Harris-Love

Exercise and Nutrition Sciences Faculty Publications

No abstract provided.

A Multimodal Approach To Preventing And Treating Alzheimer’S Disease, Jason B. Smith

Physician Assistant Scholarly Project Posters

As of 2015 over 47 million people worldwide are diagnosed with Alzheimer’s disease (AD). The incidence of AD increases with age, and affects males and females equally. Current pharmacologic treatment includes two classes of drugs. The purpose of this study was to determine if a multimodal approach (i.e. diet, exercise, cognitive stimulation) towards the prevention and treatment of AD would be more beneficial than pharmacologic therapy alone. Research methods included reviewing peer reviewed journal articles published within the past five years obtained from PubMed, Dynamed, Cochrane, CINAHL, and Clinical Key. Ehret and Chamberlin (2015) found donepezil (Aricept) increased MMSE scores …

Utility And Origin Of Blood-Based Autoantibodies For Early Detection And Diagnosis Of Neurodegenerative Diseases, Cassandra Demarshall

Graduate School of Biomedical Sciences Theses and Dissertations

Autoantibodies are self-reactive antibodies that have been widely implicated as causal agents of autoimmune diseases. They are found in the blood of all human sera, regardless of age, gender, or the presence or absence of disease. While the underlying reason for their ubiquity remains unknown, it has been hypothesized that they participate in the clearance of blood-borne cell and tissue debris generated in both healthy and diseased individuals on a daily basis. Although much evidence supports this debris clearance role, recent studies also suggest a causal role for autoantibodies in disease. My thesis work has focused on this "cause and/or …

Identification Of The Effects Of Diabetes Mellitus On The Brain, Tryphina A. Mikhail

Honors Undergraduate Theses

As more studies accumulate on the impact of diabetes mellitus on the central nervous system, they resound with the same conclusion - diabetes has a detrimental effect on cognition regardless of the presence of comorbidities. Less consistent however, are the specific mental processes wherein these declines are noticeable, and the structural changes that accompany these reductions in mental capacity. From global atrophy to changes in the volume of gray and white matter, to conflicting results regarding the effects of hypo- and hyperglycemic states on the development of the hippocampus, the studies display a variety of results. The goal of this …

Differential Rna Expression Profile Of Skeletal Muscle Induced By Experimental Autoimmune Myasthenia Gravis In Rats, Henry J. Kaminski, Keiichi Himuro, Jumana Alshaikh, Bendi Gong, Georgiama Cheng, Linda L. Kusner

Neurology Faculty Publications

The differential susceptibility of skeletal muscle by myasthenia gravis (MG) is not well understood. We utilized RNA expression profiling of extraocular muscle (EOM), diaphragm (DIA), and extensor digitorum (EDL) of rats with experimental autoimmune MG (EAMG) to evaluate the hypothesis that muscles respond differentially to injury produced by EAMG. EAMG was induced in female Lewis rats by immunization with acetylcholine receptor purified from the electric organ of the Torpedo. Six weeks later after rats had developed weakness and serum antibodies directed against the AChR, animals underwent euthanasia and RNA profiling performed on DIA, EDL, and EOM. Profiling results were validated …

Is Deep Brain Stimulation A Viable Treatment For Parkinson’S Disease?, Brocha Gold

The Science Journal of the Lander College of Arts and Sciences

Treatment options for those suffering from Parkinson’s Disease are as diverse as its symptoms. With the advent of modern technology there are new and innovative treatments that are becoming available, such as Deep Brain Stimulation (DBS). Prior to exploring treatment options one must understand the various causes of the disease. Treatment of the various motor and non-motor symptoms can include a combination of medication and surgical therapies. Among surgical interventions DBS is the treatment of choice. It has the fewest side effects and provides the greatest symptomatic relief.

An Individual With Human Immunodeficiency Virus, Dementia, And Central Nervous System Amyloid Deposition, Raymond Scott Turner, Melanie Chadwick, Wesley A Horton, Gary L. Simon, Xiong Jiang, Giuseppe Esposito

Medicine Faculty Publications

Human immunodeficiency virus (HIV)-associated neurocognitive disorder (HAND) is found in 30%-50% of individuals with HIV infection. To date, no HIV+ individual has been reported to have a positive amyloid PET scan. We report a 71-year-old HIV+ individual with HAND. Clinical and neuropsychologic evaluations confirmed a progressive mild dementia. A routine brain MRI was normal for age. [18F]Fluorodeoxyglucose-PET revealed mild hypermetabolism in bilateral basal ganglia and hypometabolism of bilateral parietal cortex including the posterior cingulate/precuneus. Resting state functional MRI revealed altered connectivity as found with individuals with mild AD. CSF examination revealed a low Aβ42/tau index but a low phospho-tau. An …

A Mechanistic Study Of An Ipsc Model For Leigh’S Disease Caused By Mtdna Mutataion (8993 T>G), John P. Galdun

Theses and Dissertations

Mitochondrial diseases encompass a broad range of devastating disorders that typically affect tissues with high-energy requirements. These disorders have been difficult to diagnose and research because of the complexity of mitochondrial genetics, and the large variability seen among patient populations. We have devised and carried out a mechanistic study to generate a cell based model for Leigh’s disease caused by mitochondrial DNA mutation 8993 T>G. Leigh’s disease is a multi-organ system disorder that depends heavily on the mutation burden seen within various tissues. Using new reprogramming and sequencing technologies, we were able to show that Leigh’s disease patient fibroblasts …

Marijuana Compounds: A Nonconventional Approach To Parkinson’S Disease Therapy, Mariana Babayeva, Haregewein Assefa, Paramita Basu, Sanjeda Chumki, Zvi G. Loewy

Touro College of Pharmacy (New York) Publications and Research

Parkinson’s disease (PD), a neurodegenerative disorder, is the second most common neurological illness in United States. Neurologically, it is characterized by the selective degeneration of a unique population of cells, the nigrostriatal dopamine neurons. The current treatment is symptomatic and mainly involves replacement of dopamine deficiency.This therapy improves only motor symptoms of Parkinson’s disease and is associated with a number of adverse effects including dyskinesia. Therefore, there is unmet need for more comprehensive approach in the management of PD. Cannabis and related compounds have created significant research interest as a promising therapy in neurodegenerative and movement disorders. In this review …

Looking To The Future Of Stroke Treatment: Combining Recanalization And Neuroprotection In Acute Ischemic Stroke, Michael E. Maniskas

Theses and Dissertations--Neuroscience

Stroke is the 5^th leading cause of death in the U.S. with 130,000 deaths and around 800,000 affected annually. Currently, there is a significant disconnect between basic stroke research and clinical stroke therapeutic needs. Few animal models of stroke target the large vessels that produce cortical deficits seen in the clinical setting. Also, current routes of drug administration, intraperitoneal and intravenous, do not mimic the clinical route of intra-arterial drug administration. To bridge this divide, we have retro-engineered a mouse model of stroke from the current standard of care for emergent large vessel occlusion (ELVO) stroke, endovascular thrombectomy, to …