Prevalence of Fabry Disease in a Defined Population at Risk - Patients Formerly Diagnosed With Multiple...
Multiple SclerosisThe association of Multiple Sclerosis (MS) and Fabry disease is known from own clinical experiences as well as from case reports in the literature, where symptoms and suspicious results in the brain MRI led to the misdiagnosis of Fabry patients as MS. Remarkably, those patients almost never showed oligoclonal bands or an intrathecally derived IgG-production was wrongly assumed due to misinterpretation of CSF results. Where oligoclonal bands were present, concomitant diagnoses had to be discussed. Furthermore, those patients showed no involvement of the spinal cord, as evidenced by MRI. Beside the possible complications of a not-effective and not-necessary MS therapy, those patients are at risk of irreparable organ damage due to the delayed implementation of enzyme replacement therapy for Fabry disease.
Brain Functional Connectivity Changes Following Cognitive Rehabilitation in Multiple Sclerosis:...
MS (Multiple Sclerosis)This trial seeks to investigate brain network changes following cognitive rehabilitation in MS patients. The investigators hypothesize that rehabilitation interventions improve connectivity in the brain.Novel Magnetic Resonance Imaging technique is performed to investigate changes in brain plasticity.
Serial Collection of Primary Progressive Multiple Sclerosis Participants in the MURDOCK Study
Primary Progressive Multiple SclerosisThe goal of this study is to enroll 100 participants with Primary Progressive Multiple Sclerosis (PPMS) that have joined the MURDOCK Study Horizon 1.5 (Duke IRB Pro00011196) and the Multiple Sclerosis cohort (Duke IRB Pro00023791). All 100 participants will complete a biannual collection of a follow up questionnaire and blood/urine collection for a period of 5 years.
Chewing Efficiency Measured by a Two Colour Chewing Gum Test in Amyotrophic Lateral Sclerosis (ALS)...
Amyotrophic Lateral Sclerosis 11Study aims: The primary aim is to determine whether chewing efficiency, determined by a two-colour mixing ability test, and maximum bite and lip force decrease in ALS patients.
Measuring Active Microglia in Progressive Multiple Sclerosis
Secondary Progressive Multiple SclerosisThis is pilot study designed to quantifying the innate immune inflammatory burden in a cohort of secondary progressive multiple sclerosis subjects. Innate immunity is recognized as a major cause of tissue injury in central nervous system (CNS) disease. Our hypothesis is that the innate immune response is heightened in SPMS as compared to healthy controls (HC's) and this activity increases over time and correlates with ongoing neuronal loss and disability. The investigators will test this hypothesis by using highly specific molecular imaging techniques, specifically PET, in conjunction with high field MRI. The investigators will utilize the PET radioligand [11C]PK11195 which will be used as a marker of activated macrophages/microglia. The investigators will correlate [11C]PK11195 uptake with conventional measures of inflammation and neuronal integrity on high-resolution MRI. SPMS subjects will have two baseline [11C]PK-11195 PET scans (separated by 24 to 72 hours, test-retest) and subsequent scans at 6, 12 and 24 months. SPMS Subjects will have brain MRI's at baseline, 6, 12 and 24 months. Healthy Controls will have 2 baseline PET scans and one MRI.
Natural History and Biomarkers of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Caused...
Amyotrophic Lateral SclerosisFrontotemporal Lobar DegenerationBackground: - Some people have a mutation in the C9ORF72 gene that causes amyotrophic lateral sclerosis (ALS) or frontotemporal dementia (FTD). The mutation causes a small piece of DNA to repeat itself thousands of times. The C9ORF gene mutation mostly occurs in families. In those families, some persons have ALS and others have FTD. Occasionally the C9ORF gene mutation occurs in persons without a family history. Researchers want to understand how this gene causes different diseases. They will study how symptoms caused by the C9ORF gene develop and change over time. They will measure symptoms that occur in ALS and in FTD. In particular, they will measure strength, ability to move, thinking, and memory. They will also see if other tests are associated with progression of disease. These tests, called biomarkers, may help detect or measure C9ORF72 disease in the future. Objectives: - To understand how symptoms change over time in people with mutations in a gene called C9ORF72, which causes ALS and FTD. Eligibility: - Adults over age 18 who have this genetic mutation Design: Participants will have up to 4 in-person visits and 3 telephone interviews over 3 years. Each in-person visit may take place over several days. They may be either inpatient or outpatient visits. At each visit, participants will undergo a series of brain, language, and behavior tests. These will include: Magnetic resonance imaging (MRI) of the brain. This uses magnets, radio waves, and computers to produce detailed pictures of the brain. Collecting spinal fluid. The clinician will make the participant s back numb and then insert a needle to collect fluid. <TAB>- Blood samples will be taken. <TAB>- Participants will be asked to perform several language and movement tests. <TAB>- Small skin samples will be taken on one visit - Between visits, participants will answer questions about their health over the phone 3 times.
Th Effects of Aubagio on Brain Pathology in Multiple Sclerosis Studied Over 12 Months
Multiple SclerosisThis study will evaluate the effects of Aubagio on changes in the brain using MRI.
Effects of Gilenya (Fingolimod) on Thalamus Pathology and Cognitive Impairment in Patients With...
Multiple SclerosisHealthyThis study aims to assess the effect of Gilenya on brain pathology and cognitive impairment over 6, 12, and 24 months in patients with relapsing MS using MRI, clinical data, and neurological assessments. Healthy controls will also be followed over 6, 12, and 24 months using the same measures.
The Effects of Attention Retraining in MS
Multiple SclerosisThe purpose of this study is to determine whether neuropsychological rehabilitation focused on attention retraining and teaching compensatory strategies has positive effects on cognitive performance, quality of life (QoL)and perceived cognitive deficits in patients with MS. The hypothesis is that the neuropsychological intervention shows positive effects on cognitive performance, QoL and perceived cognitive deficits.
Using Optical Coherence Tomography to Capture Retinal Microvascular Changes Associated With Multiple...
Multiple SclerosisRecent studies have shown that people with multiple sclerosis (MS) who also have diseases related to vascular health such as high cholesterol, high blood pressure, diabetes, cardiovascular disease, and others, may end up more disabled than people with MS who don't have those diseases. This has led to a growing interest in the role of vascular diseases in MS since they may provide another avenue of MS treatment. Some also think that vascular disease may even be a cause of MS. The back of the eye, the retina, is well-suited to studying vascular diseases as blood vessels can be seen even on routine examination of the eye by eye doctors. These specialists are used to seeing changes in retinal blood vessels due to diseases known to affect the eyes such as glaucoma and diabetes. Sophisticated techniques for examining the retina allow for not only visualization of blood vessels, but the rate of blood flow through the blood vessels as well. These blood flow changes are thought to come before changes in what the blood vessels look like, and so may be able to detect problems even earlier than routine examination of the retina by eye doctors. Retinal blood flow has never been carefully studied in MS. Given that MS affects the retina due to the late effects of inflammation of the optic nerve, or optic neuritis, the investigators expect to see altered blood flow in the retinal blood vessels of people with MS compared to healthy control subjects. If so, the investigators can then use retinal blood flow as a way to measure therapies that target vascular diseases in the MS population and determine if those therapies can alter the course of disease.