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Jankovic–Rivera Syndrome
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle (atrophy), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. Only 12 known human families are described in scientific literature to have SMA-PME. SMA-PME is associated with a missense mutation (c.125C→T) or deletion in exon 2 of the '' ASAH1'' gene and is inherited in an autosomal recessive manner. SMA-PME is closely related to a lysosomal disorder disease called Farber lipogranulomatosis. As with many genetic disorders, there is no known cure for SMA-PME. The condition was first described in 1979 by American researchers Joseph Jankovic and Victor M. Rivera. ASAH1 gene The ASAH1 gene codes for acid ceramidase The ASAH1 gene encodes in humans the ''acid ceramidase'' enzyme. Function This gene encodes a Heterodimeric#Bio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Neurodegenerative
A neurodegenerative disease is caused by the progressive loss of structure or function of neurons, in the process known as neurodegeneration. Such neuronal damage may ultimately involve cell death. Neurodegenerative diseases include amyotrophic lateral sclerosis, multiple sclerosis, Parkinson's disease, Alzheimer's disease, Huntington's disease, multiple system atrophy, and prion diseases. Neurodegeneration can be found in the brain at many different levels of neuronal circuitry, ranging from molecular to systemic. Because there is no known way to reverse the progressive degeneration of neurons, these diseases are considered to be incurable; however research has shown that the two major contributing factors to neurodegeneration are oxidative stress and inflammation. Biomedical research has revealed many similarities between these diseases at the subcellular level, including atypical protein assemblies (like proteinopathy) and induced cell death. These similarities suggest that the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Farber Lipogranulomatosis
Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", and ''ASAH1''-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme. Acid ceramidase is responsible for breaking down ceramide into sphingosine and fatty acid. When the enzyme is deficient, this leads to an accumulation of fatty material (called ceramide) in the lysosomes of the cells, leading to the signs and symptoms of this disorder. Signs and Symptoms The symptoms of Farber disease develop over time. The onset of symptoms and how quickly they progress vary from person to person. The most common symptoms include: * Bumps under the skin located at pressure points and joints, also called subcutaneous nodules, lipogranulomas, or granulomas * Swollen, painful joints with progressive limitation of range of motion resulting in contracture * Hoarse voice/cry Other symptoms obser ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Systemic Atrophies Primarily Affecting The Central Nervous System
Systemic fundamental to a predominant social, economic, or political practice. This refers to: In medicine In medicine, ''systemic'' means affecting the whole body, or at least multiple organ systems. It is in contrast with ''topical'' or ''local''. * Systemic administration, a route of administration of medication so that the entire body is affected *Systemic circulation, carries oxygenated blood from the heart to the body and then returns deoxygenated blood back to the heart *Systemic disease, an illness that affects multiple organs, systems or tissues, or the entire body * Systemic effect, an adverse effect of an exposure that affects the body as a whole, rather than one part *Systemic inflammatory response syndrome, an inflammatory state affecting the whole body, frequently in response to infection *Systemic lupus erythematosus, a chronic autoimmune connective tissue disease that can affect any part of the body *Systemic scleroderma, also known as systemic sclerosis, a system ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Progressive Myoclonus Epilepsy
Progressive Myoclonic Epilepsies (PME) are a rare group of inherited neurodegenerative diseases characterized by myoclonus, resistance to treatment, and neurological deterioration. The cause of PME depends largely on the type of PME. Most PMEs are caused by autosomal dominant or recessive and mitochondrial mutations. The location of the mutation also affects the inheritance and treatment of PME. Diagnosing PME is difficult due to their genetic heterogeneity and the lack of a genetic mutation identified in some patients. The prognosis depends largely on the worsening symptoms and failure to respond to treatment. There is no current cure for PME and treatment focuses on managing myoclonus and seizures through antiepileptic medication (AED). The age of onset depends on the specific PME but PME can affect people of all ages. In Unverricht-Lundborg disease (ULD) the age of onset is between 6–15 years, while in Adult Neuronal ceroid lipofuscinoses (Adult NCL) the age of onset can be a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spinal Muscular Atrophies
Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. While some SMAs lead to early infant death, other diseases of this group permit normal adult life with only mild weakness. Classification Based on the type of muscles affected, spinal muscular atrophies can be divided into: * ''Proximal spinal muscular atrophies'', i.e., conditions that affect primarily proximal muscles; * ''Distal spinal muscular atrophies'' (which significantly overlap with distal hereditary motor neuronopathies) where they affect primarily distal muscles. When taking into account prevalence, spinal muscular atrophies are traditionally divided into: * '' Autosomal recessive proximal spinal muscular atrophy'', responsible for 90-95% of cases and usu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Axon
An axon (from Greek ἄξων ''áxōn'', axis), or nerve fiber (or nerve fibre: see spelling differences), is a long, slender projection of a nerve cell, or neuron, in vertebrates, that typically conducts electrical impulses known as action potentials away from the nerve cell body. The function of the axon is to transmit information to different neurons, muscles, and glands. In certain sensory neurons (pseudounipolar neurons), such as those for touch and warmth, the axons are called afferent nerve fibers and the electrical impulse travels along these from the periphery to the cell body and from the cell body to the spinal cord along another branch of the same axon. Axon dysfunction can be the cause of many inherited and acquired neurological disorders that affect both the peripheral and central neurons. Nerve fibers are classed into three typesgroup A nerve fibers, group B nerve fibers, and group C nerve fibers. Groups A and B are myelinated, and group C are unmyelinated. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Myelin
Myelin is a lipid-rich material that surrounds nerve cell axons (the nervous system's "wires") to insulate them and increase the rate at which electrical impulses (called action potentials) are passed along the axon. The myelinated axon can be likened to an electrical wire (the axon) with insulating material (myelin) around it. However, unlike the plastic covering on an electrical wire, myelin does not form a single long sheath over the entire length of the axon. Rather, myelin sheaths the nerve in segments: in general, each axon is encased with multiple long myelinated sections with short gaps in between called nodes of Ranvier. Myelin is formed in the central nervous system (CNS; brain, spinal cord and optic nerve) by glial cells called oligodendrocytes and in the peripheral nervous system (PNS) by glial cells called Schwann cells. In the CNS, axons carry electrical signals from one nerve cell body to another. In the PNS, axons carry signals to muscles and glands or from senso ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lysosomes
A lysosome () is a membrane-bound organelle found in many animal cells. They are spherical vesicles that contain hydrolytic enzymes that can break down many kinds of biomolecules. A lysosome has a specific composition, of both its membrane proteins, and its lumenal proteins. The lumen's pH (~4.5–5.0) is optimal for the enzymes involved in hydrolysis, analogous to the activity of the stomach. Besides degradation of polymers, the lysosome is involved in various cell processes, including secretion, plasma membrane repair, apoptosis, cell signaling, and energy metabolism. Lysosomes act as the waste disposal system of the cell by digesting used materials in the cytoplasm, from both inside and outside the cell. Material from outside the cell is taken up through endocytosis, while material from the inside of the cell is digested through autophagy. The sizes of the organelles vary greatly—the larger ones can be more than 10 times the size of the smaller ones. They were discovered ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Acid Ceramidase
The ASAH1 gene encodes in humans the ''acid ceramidase'' enzyme. Function This gene encodes a Heterodimeric#Biochemistry, heterodimeric protein consisting of a nonglycosylated alpha subunit and a Glycosylation, glycosylated beta subunit that is cleaved to the mature enzyme Posttranslational modification, posttranslationally. The encoded protein catalyzes the synthesis and degradation of ceramide into sphingosine and fatty acid. Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. Two transcript variants encoding distinct isoforms have been identified for this gene. In Melanocyte, melanocytic cells ASAH1 gene expression may be regulated by Microphthalmia-associated transcription factor, MITF. As a glioblastoma drug target ASAH1 expression is upregulated following radiation, suggesting it plays a role in c ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Joseph Jankovic
Joseph Jankovic is an American neurologist who is a professor in neurology at Baylor College of Medicine in Houston, Texas. He is the Distinguished Chair in Movement Disorders and founder and director of the Parkinson's Disease Center and Movement Disorders Clinic. Career Jankovic received his M.D. from the University of Arizona College of Medicine in 1973. He completed his internship at Baylor College of Medicine and residency in neurology at Columbia University, where he was chief resident. He joined the faculty of Baylor College of Medicine in 1977 and was promoted to full professor in 1988. He currently holds the Distinguished Chair in Movement Disorders. Jankovic has served as the principal investigator in numerous clinical trials. His research is in etiology, pathogenesis, and classification of various movement disorders and on experimental therapeutics. Jankovic has contributed to classifications, characterization, and therapeutic guidelines of various movement disorders. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Genetic Disorder
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause, either in a gene or chromosome. The mutation responsible can occur spontaneously before embryonic development (a ''de novo'' mutation), or it can be Heredity, inherited from two parents who are carriers of a faulty gene (autosomal recessive inheritance) or from a parent with the disorder (autosomal dominant inheritance). When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y linkage, Y chromosome or Mitochondrial disease#Causes, mitochondrial DNA (due to t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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