Primary Lateral Sclerosis Overview
Learn About Primary Lateral Sclerosis
- Primary lateral sclerosis
- Adult-onset PLS
- Adult-onset primary lateral sclerosis
Johns Hopkins Outpatient Center
Nicholas Maragakis treats patients with motor neuron diseases, such as amyotrophic lateral sclerosis (ALS). This care is coordinated with the Johns Hopkins Center for ALS Specialty Care, a multidisciplinary clinic with expertise in treating patients with ALS and providing support to their caregivers. He serves as medical director of the ALS Clinical Trials Unit, an extension of the multidisciplinary clinic that seeks to facilitate opportunities for patients with ALS to participate in clinical trials that could advance the treatment of this disease. Dr. Maragakis is interested in the basic science of understanding neurodegenerative diseases, as well as the translational potential of therapeutic compounds developed in the laboratory. His fundamental research interest is in using stem cells — more specifically, stem cell-derived motor neurons and glia — for understanding the development and propagation of ALS. His laboratory has been involved in creating and characterizing lines of stem cells from patients with ALS using induced pluripotent stem cell (iPSC) methodologies. The laboratory has a large library of iPSCs from patients with familial ALS and from patients with sporadic ALS. The utilization of this library of iPSCs has facilitated the development of a spinal cord-specific iPSC-astrocyte/motor neuron co-culture system, which has been leveraged for the development of assays that can be used for both the basic understanding of ALS astrocyte and motor neuron biology as well as, eventually, drug screening for ALS therapeutics. His laboratory has taken its long-standing interests in astrocyte biology, as it relates to ALS, to develop a program that investigates astrocyte-specific mechanisms as contributors to the progression (both temporally and anatomically) of disease in ALS. In this vein, there is an interest in astrocytic glutamate transporters and, more recently, astrocyte hemichannels and gap junctions. Dr. Maragakis is rated as an Elite provider by MediFind in the treatment of Primary Lateral Sclerosis. His top areas of expertise are Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Primary Lateral Sclerosis, 15q11.2 Microdeletion, and Spinal Muscular Atrophy (SMA).
BIDMC Department Of Neurology
Seward Rutkove is a Neurologist in Boston, Massachusetts. Dr. Rutkove is rated as an Elite provider by MediFind in the treatment of Primary Lateral Sclerosis. His top areas of expertise are Primary Lateral Sclerosis, Amyotrophic Lateral Sclerosis (ALS or Lou Gehrig's Disease), Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, and Orchiectomy.
Johns Hopkins Outpatient Center
Dr. Tom Crawford has been a member of the Department of Neurology since 1987. He is co-director of the MDA clinic for Neuromuscular Disorders and Neurologist for the Ataxia Telangiectasia Clinical Center at Johns Hopkins. His practice involves general child neurology with a principal interest in caring for children with neuromuscular, neuromotor, and ataxic disorders. Primary research interests involve the basic science and clinical characterization of two important neurologic disorders that affect children: Spinal Muscular Atrophy and Ataxia Telangiectasia. He is also actively involved in the Biology of neurofilaments by characterization of transgenic animal models. He is on the Medical and Scientific Advisory Boards of Families of Spinal Muscular Atrophy, and the Medical Advisory Committee for the Muscular Dystrophy Association. He is the Neurologist for the Ataxia Telangiectasia Clinical Center at Johns Hopkins, which has evaluated almost half of the known patients with this disorder in the United States. Additional specific clinical interests include evaluation and treatment of children with brachial plexus palsies. Dr. Crawford received his medical degree from the University of Southern California. He completed a pediatric internship and residency at the Pediatric Pavilion of the Los Angeles County / University of Southern California Medical Center, followed by a pediatric chief residency. He completed his training in Neurology with Special Qualification in Child Neurology at the Los Angeles Childrens Hospital. He then traveled east to the laboratory of Dr John Griffin at Johns Hopkins for a fellowship in Neuromuscular Disorders. Prior to medical training and Neurology residency, he majored in Psychology and Religion at Yale College. Dr. Crawford has published extensively and presented nationally and internationally. He has an active role in teaching medical students and residents in neurology. In addition, Dr. Crawford has special interest and experience in EMG studies of children and adults. Dr. Crawford is rated as an Elite provider by MediFind in the treatment of Primary Lateral Sclerosis. His top areas of expertise are Primary Lateral Sclerosis, Spinal Muscular Atrophy (SMA), Ataxia-Telangiectasia, and Spinal Muscular Atrophy Type 2.
Background: Amyotrophic lateral sclerosis (ALS) is a disorder that damages nerve cells in the brain and spinal cord. It can cause muscle weakness, paralysis, and loss of movement. The symptoms grow worse over time. Half of all people with ALS live only 3 to 5 years after diagnosis. Current drug treatments can slow the progress of the disease, but they cannot stop or reverse it.
Summary: The Active NBS Liege study is a monocentric, academic, fully remote, observational study designed to validate digital measures of motor development in children with spinal muscular atrophy (SMA) or Duchenne muscular dystrophy (DMD) identified through newborn screening, family testing, or incidental diagnosis. The study will enroll 100 children and follow them longitudinally for up to 30 months. Pa...
Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center


