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Alexander disease

Alexander disease Genetic and Rare Diseases Information

Alexander disease is an extremely rare, usually progressive and fatal, neurological disorder. Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life Alexander disease is a rare genetic disorder that progressively damages the nervous system. It is a type of leukodystrophy, a group of conditions that affect the white matter of the brain Alexander disease is a genetic disorder affecting the midbrain and cerebellum of the central nervous system. It is caused by mutations in the gene for glial fibrillary acidic protein (GFAP) that maps to chromosome 17q 21 The great majority of all cases of Alexander Disease (infantile, juvenile and adult) are caused by a defect in a specific gene called GFAP, which stands for Glial Fibrillary Acidic Protein. GFAP is an intermediate filament protein, which means that it is involved in the structural development of the cells What is Alexander Disease? Alexander Disease is a form of Leukodystrophy that is a fatal, neurodegenerative disease. This means that the neurons in the brain continually lose structure and functionality over time. Photo: Olivia Kay Borodychuk, 10/10/08-4/28/17, Alexander Disease

Alexander disease is a very rare disorder of the nervous system. Normally, nerve fibers are covered by a fatty layer, called myelin. Myelin protects the nerve fibers and helps them transmit.. Alexander Disease is a rare pathological condition of the nervous system which is actually a collection of a group of disorders known as leukodystrophy in which there is massive destruction of myelin

Alexander Disease Information Page National Institute of

Alexander disease: MedlinePlus Genetic

Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an. Alexander disease is usually presented during infancy or early childhood, but may also occur much later in life. Depending on the onset of the symptoms, Alexander disease is divided into three categories: infantile, juvenile and adult. Infantile form of the disease is the most common and accounts for about 80% of the cases. Approximately 14% of. Alexander disease is an autosomal dominant leukodystrophy, which are neurological conditions caused by anomalies in the myelin, a fatty substance which protects nerve fibers in the brain. It's a rare genetic disorder that primarily occurs in infants and children. Leukodystrophies are characterized by abnormalities in the brain's white. Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the. Alexander disease is a rare, nonfamilial leukoencephalopathy that typically presents with frontal preponderance of white matter abnormalities and macrencephaly. Since the first description of this disease by Alexander in 1949 (1), different clinical subtypes have been recognized

Alexander Disease - NORD (National Organization for Rare

Alexander Disease is an Ultra-Rare leukodystrophy characterized by abnormal protein deposits known as Rosenthal fibers. These deposits are found in specialized cells called astroglial cells, which support and nourish other cells in the brain and spinal cord. Alexander Disease is caused by mutations in the GFAP gene Alexander disease is considered a gain-of-function disorder in the sense that the GFAP mutations produce consequences that differ dramatically from those caused by the absence of GFAP (for review, see Brenner et al., 2009)

Alexander disease (AD) in its typical form is an infantile lethal leucodystrophy, characterized pathologically by Rosenthal fibre accumulation. Following the identification of glial fibrillary acidic protein (GFAP) gene as the causative gene, cases of adult-onset AD (AOAD) are being described with increasing frequency Alexander disease, a progressive disorder of cerebral white matter caused by a heterozygous GFAP pathogenic variant, comprises a continuous clinical spectrum most recognizable in infants and children and a range of nonspecific neurologic manifestations in adults. This chapter discusses the spectrum of Alexander disease as four forms: neonatal, infantile, juvenile, and adult The Genetic Testing Registry (GTR) provides a central location for voluntary submission of genetic test information by providers. The scope includes the test's purpose, methodology, validity, evidence of the test's usefulness, and laboratory contacts and credentials. The overarching goal of the GTR is to advance the public health and research into the genetic basis of health and disease

Alexander Disease Children's Hospital of Philadelphi

Alexander disease has always been considered a classic leukodystrophy (the term literally meaning abnormal white matter nutrition, but usually used more broadly to indicate any hereditary or metabolic white matter abnormality). Although rare (the true incidence is not yet known), the disease is always included in the differential diagnosis when encountering an infant with macrocephaly, delayed. Alexander disease, a leukodystrophy, is a progressive and usually fatal neurological disorder in which the destruction of white matter in the brain is accompanied by the formation of abnormal deposits known as Rosenthal fibers. Rosenthal fibers are aggregations of protein that occur in astrocytes, which are supporting cells of the brain. These aggregates are foun

Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the. Alexander disease, caused by mutation in the glial fibrilliary acidic protein gene that regulates astrocyte function, can be inherited in an autosomal-dominant manner, but often presents as a sporadic disease with de novo mutations. The typical infantile-onset Alexander disease is a fatal leukodystrophy, with onset before the age of 2 years

Alexander disease - Wikipedi

  1. Alexander Disease. February 2, 2016 April 19, 2020 / By ulfunited. We thank Dr. Albee Messing with the Waisman Center at the University of Wisconsin-Madison for sharing two webinars and a podcast with updates on research on Alexander Disease. We hope that you will find this information useful
  2. Alexander disease is an inherited disorder of the nervous system. The neurological condition is caused when myelin sheath around nerves in the brain is damaged. It's a rare abnormality that usually begins before the age of 2. Alexander disease is not very common as only 500 cases are detected since the disease was discovered first
  3. Alexander disease is a condition affecting the white matter of the brain and the destruction of myelin. Myelin is the covering that insulates nerve fibers and allows for the rapid transmission of nerve impulses. Some symptoms include seizures, and loss of motor and intellectual disabilities
  4. Alexander disease is a fatal neurological illness characterized by white-matter degeneration and the formation of astrocytic cytoplasmic inclusions called Rosenthal fibers, which contain the intermediate filament glial fibrillary acidic protein (GFAP), the small heat-shock proteins HSP27 and αB-crystallin, and ubiquitin
  5. Alexander Disease is an extremely rare genetic disorder which typically results in a fatal deterioration of the patient's nervous system. In most cases, the symptoms appear in patients in their infantile years (typically starting from approximately 6 months after birth), but the disorder may be triggered at any stage of life

Background: Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene. Clinical and MRI phenotypic variation have been increasingly recognized. Methods: The authors studied seven patients with Alexander disease, diagnosed based on mutations in the GFAP gene, who presented. Alexander disease; only in atypical cases is a brain biopsy still necessary for a definitive diagnosis. Alexander disease is a rare, nonfamilial leukoen-cephalopathy that typically presents with frontal preponderance of white matter abnormalities and macrencephaly. Since the first description of thi Alexander disease, a leukodystrophy, is a progressive and usually fatal neurological disorder in which the destruction of white matter in the brain is accompanied by the formation of abnormal deposits known as Rosenthal fibers. Rosenthal fibers are aggregations of protein that occur in astrocytes, which are cells that support the brain

Alexander disease (AD) is a progressive disorder of the white matter of the central nervous system (CNS). The three types of AD are categorized by age of onset: infantile, juvenile, and adult. Affected infants develop a megalencephalic leukodystrophy, seizures, spasticity, ataxia, and psychomotor retardation Alexander disease is a leukodystrophy, a group of more than 15 rare genetic disorders that cause progressive degeneration of the white matter of the brain due to imperfect growth or destruction of the myelin sheath, the fatty covering that insulates nerve fibers in the brain and spinal cord and promotes rapid transmission of nerve impulses

Specialists who have done research into Alexander disease. These specialists have recieved grants, written articles, run clinical trials, or taken part in organizations relating to Alexander disease, and are considered knowledgeable about the disease as a result Alexander disease is a fatal neurological disorder that causes progressive deterioration of the brain's white matter. The disorder usually affects children under two years, but it can occur in older children or adults. When it begins in infancy, Alexander disease usually causes severe physical and intellectual impairments

Alexander Disease United Leukodystrophy Foundatio

  1. Alexander disease (ALX) is a rare and often fatal nervous system disorder that primarily occurs in infants and children. Alexander disease is thought to be quite rare with approximately 200 cases described. Although there are no known prevalence estimates, the disease has been reported in both males.
  2. Alexander disease (AxD) is a rare neurological condition characterized as a leukodystrophy, or a disease affecting the myelin sheath (the fatty insulation that protects a nerve fiber and supports.
  3. Alexander Disease: Genes Included: GFAP: Informed Consent Required: This test requires physician attestation that patient consent has been received: Technical Information. Clinical Significance: Detects sequence variants in GFAP gene in infants with seizures, megalencephaly, developmental delay, spasticity. Juveniles and Adults: Signs of brain.
  4. Alexander disease (AxD) is a rare neurological condition characterized as a leukodystrophy, or a disease affecting the myelin sheath (the fatty insulation that protects a nerve fiber and supports signal conduction). Two major types of AxD have been defined. Type I onset typically occurs before 4 years of age and patients can experience head.
  5. Alexander disease has been grouped among the leukodystrophies because of the pronounced white matter deficiency seen in children with this disorder. Infants, who typically have rapid clinical courses, do not myelinate appropriately and manifest widespread destruction of white matter, even to the point of cavitation . Young patients typically.
  6. Alexander disease is a fatal neurological illness characterized by white-matter degeneration and formation of Rosenthal fibers, which contain glial fibrillary acidic protein as astrocytic inclusion. Alexander disease is mainly caused by a gene mutation encoding glial fibrillary acidic protein, although the underlying pathomechanism remains unclear

Alexander Disease - Leukodystrophy Symptoms, Treatment

  1. Daniel's Fight is driven to raise awareness and educate the public about Alexander Disease, all while raising funds for research to one day end this nasty disease. ALL PROCEEDS go directly to the Waisman Center at the University of Wisconsin where the experts are researching a possible treatment. Daniel's Story
  2. g puppy syndrome). Alexander disease is currently untreatable, with owners typically opting to euthanize weeks to months.
  3. Alexander Disease. Alexander disease, a leukodystrophy, is a progressive and usually fatal neurological disorder in which the destruction of white matter in the brain is accompanied by the formation of abnormal deposits known as Rosenthal fibers. Rosenthal fibers are aggregations of protein that occur in astrocytes, which are cells that support.
  4. ant the clinical course
  5. ant disorder, which means one copy of the altered gene in each cell is sufficient to cause the.
  6. Alexander disease is a rare, and often fatal, disorder affecting the midbrain and cerebellum of the central nervous system. Based on age of onset, different forms of Alexander disease have been described: infantile, juvenile, and adult forms. Generally, earlier onset is associated with more severe and rapid disease course (Srivastava et al. 2002)
  7. Alexander disease in Labrador retrievers can be compared with the juvenile type of the disorder in man, based on symptoms and age of their onset. Characteristics and Symptoms. Astrocytes are a type of glial cells in the brain and spinal cord. One of the main compounds of astrocytes is the glial fibrillary acidic protein (GFAP)

Alexander Disease: Symptoms, Diagnosis, and Outloo

Also, Alexander Disease is known to be very rare, and more popular in the infintile state, so if you are an adult and you don't have it, most likely you won't get it. Leonardo Da Vinci had Alexander disease but he was still considered to be one of the greatest painters of all time and possibly the most diversely talented person to ever live Alexander disease (AxD) is a rare neurodegenerative disorder that is caused by dominant mutations in the gene encoding glial fibrillary acidic protein (GFAP), an intermediate filament that is primarily expressed by astrocytes

Alexander DiseaseCausesSymptomsTreatmentLife Expectanc

Rosenthal fibers (RFs) are cytoplasmic, proteinaceous aggregates. They are the pathognomonic feature of the astrocyte pathology in Alexander Disease (AxD), a neurodegenerative disorder caused by heterozygous mutations in the GFAP gene, encoding glial fibrillary acidic protein (GFAP). Although RFs have been known for many years their origin and significance remain elusive issues The clinical spectrum of late-onset Alexander disease: a systematic literature review Journal of Neurology Official Journal of the European Neurological Society ISSN 0340-5354 Volume 257 Number 12 J Neurol (2010) 257:1955-1962 DOI 10.1007/ s00415-010-5706-1 1 23 Your article is protected by copyright and all rights are held exclusively by Springer- Verlag Alexander disease: A slowly progressive and ultimately fatal brain disorder that most commonly occurs in children. The infantile form of the disease is characterized by megalencephaly (an abnormally large head), seizures, spasticity and developmental retardation. It leads to death usually within the first decade

What is Alexander Disease? (with pictures

PerkinElmer Genetics, Inc. provides the following Supplemental NBS Packets to Hunter's Hope at a significantly reduced cost, which we pass on to you: $50 - Lysosomal Storage Disorders (LSD Only Packet) includes Krabbe, Fabry, Gaucher, Pompe, Hurler Syndrome and Niemann-Pick A/B. $100 - StepOne® / LSD Newborn Screening Packet Change From Baseline in Alexander Disease Patient Domain Impression of Severity (AxD-PDIS) Score [ Time Frame: Baseline and Week 61 ] The AxD-PDIS questionnaire captures the participant's rating of the severity of specific disease symptoms including gross and fine motor problems, GI problems, language or speech problems and other cognitive. Alexander disease is an autosomal dominant hereditary disease characterized by progressive spastic paraplegia, ataxia, and bulbar symptoms caused by mutations in the glial fibrillary acidic protein ( GFAP ) gene. Previous nation-wide surveillance revealed that the prevalence rate in Japan is estimated at 1 in 2.7 million people.1 Meanwhile, SCA6 is an autosomal dominant spinocerebellar ataxia.

Alexander disease Radiology Reference Article

Alexander disease. Very rare autosomal dominant leukodystrophy, which are neurological conditions caused by anomalies in the myelin which protects nerve fibers in the brain. Wikipedia. Rare and often fatal lysosomal storage disease that results in progressive damage to the nervous system 203450 - ALEXANDER DISEASE; ALXDRD - Average age of onset 6 months (range birth - 2 years) - Death by age 5 (infantile form Alexander disease is a rare autosomal dominant leukodystrophy, which means one copy of the altered affected gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene. These cases occur in people with no history of the disorder in their family If you have problems viewing PDF files, download the latest version of Adobe Reader. For language access assistance, contact the NCATS Public Information Officer. Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-231

Alexander Disease - BrainFact

In Alexander disease, the destruction of white matter is accompanied by the formation of Rosenthal fibers--abnormal clumps of protein that accumulate in non-nerve cells (astrocytes) in the brain. The most common type of Alexander disease is the infantile form that usually begins during the first two years of life Alexander disease is one of a group of neurological conditions known as the leukodystrophies disorders that are the result of abnormalities in myelin, the white matter that protects nerve fibers in the brain. The disease occurs in both males and females, and there are no ethnic, racial, geographic, or cultural/economic differences in its.

Alexander disease (AD) is a rare, progressive, autosomal dominant leukodystrophy affecting the central nervous system (CNS) white matter with frontal lobe preponderance. It was first described in 1949 by W. Stewart Alexander. But the first genetically proved case of AD was reported by Brenner's group in 2001 Alexander disease is a progressive neurological disease that is genetically transmitted. It almost exclusively affects infants and children. Because of a faulty gene, the tissue of the cerebellum becomes replaced by eosinophilic fibres. It is very rare, with about 500 reported cases. Patients with the condition start by losing motor function and, eventually, even the ability to speak. It can. Alexander Disease. Nathan Revadigar History of Alexander Disease Discovered in 1949 Only about 500 recorded cases ever Discovered by W.S. Alexander What is Alexander Disease? Rare disorder of the nervous system Involves the destruction of myelin: fatty covering that insulates nerve fibers As myelin deteriorates in patients, nervous system functions are impaired Three forms Infantile Juvenile. Neurodegenerative diseases like Alzheimer's disease (AD) and Parkinson's disease (PO) are highly common especially with a growing elderly population. Alexander disease (ALX) is a rare neurodegenerative brain disease that typically affects infants, but has paralleling characteristics with AD, PD and Amyotrophic Lateral Sclerosi

In 1997, a group of doctors and researchers attempted a bone-marrow transplant in a patient suffering from infantile Alexander Disease and proved to be unsuccessful. (6) Antibiotic therapies to prevent infections, anti-epileptic therapy for seizures, and other methods existent to aid in the aforementioned symptoms are the only methods of treatment A year ago, Grayson was diagnosed with Alexander disease, an extremely rare type of leukodystrophy that destroys the white matter that protects the nerve fibers in the brain, resulting in.

Introduction. Alexander disease (AD) is an infantile leucodystrophy first described in 1949 and characterized by macrocephaly, psychomotor regression, spasticity, ataxia and seizures leading to death in a few years (Li et al., 2005; Quinlan et al., 2007).Rosenthal fibres, eosinophylic inclusions localized in astrocyte cytoplasm, are the pathologic hallmark of the disease and are mainly found. Alexander disease is an extremely rare neurological disorder that severely impairs the functions of nervous system leading to intellectual disability and developmental delay. In this infographic, neuroscientist Rajamani Selvam explains about the causes, symptoms, and treatments for Alexander disease

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Alexander disease, a rare fatal disorder of the central nervous system, causes progressive loss of motor and mental function. Until recently it was of unknown etiology, almost all cases were sporadic, and there was no effective treatment. It was most common in an infantile form, somewhat less so in a juvenile form, and was rarely seen in an adult-onset form Alexander Disease This disease belongs to a group of disorders known as the leukodystrophies, which are characterised by the loss of the fatty insulation coverings (myelin sheaths) that surround the nerves in the brain. These fatty coverings are important in allowing nerve impulses to transfer effectively Alexander Disease: Definition and Information. Synopsis: Alexander disease is one of a group of neurological conditions known as leukodystrophies disorders that are the result of abnormalities in myelin the white matter that protects nerve fibers in the brain