1. NINDS Alexander Disease Information Page Information sheet compiled by NINDS, the National Institute of Neurological Disorders and Stroke.Category Health Conditions and Diseases Leukodystrophy...... More about alexander disease, Studies with patients, Research literature, Pressreleases, Disclaimer, NINDS alexander disease Information Page Reviewed 1102-2001 http://www.ninds.nih.gov/health_and_medical/disorders/alexand_doc.htm

National Institute of Neurological Disorders and Stroke Accessible version Science for the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system Browse all disorders Browse all health organizations More about Alexander Disease Studies with patients Research literature Press releases Search NINDS... (help) Contact us My privacy NINDS is part of the National Institutes of Health NINDS Alexander Disease Information Page Reviewed 11-02-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Alexander Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Alexander Disease? Alexander disease is a rare, genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath — the fatty covering which acts as an insulator — on nerve fibers in the brain. Alexander disease, which affects mostly males, is usually nonfamilial and begins at about 6 months of age. Symptoms may include mental and physical retardation, dementia, enlargement of the brain and head, spasticity (stiffness of arms and/or legs), and seizures. In addition to the infantile form, juvenile and adult onset forms of the disorder have been reported. These forms occur less frequently and have a longer course of progression. Is there any treatment?

2. Alexander Disease alexander disease is a rare, genetic, degenerative disorder of the nervous system. http://healthlink.mcw.edu/article/921383447.html

Search Articles: search tips Please Take the HealthLink Survey Email this article Print this article Find related articles: By topic: Neurology By keywords: Receive Health Link via email! Subscribe now >> Alexander Disease Alexander disease is a rare, genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty coveringwhich acts as an insulatoron nerve fibers in the brain. Alexander disease, which affects mostly males, usually begins at about 6 months of age. Symptoms may include mental and physical retardation, dementia, enlargement of the brain and head, spasticity (stiffness of arms and/or legs), and seizures. In addition to the infantile form, juvenile and adult onset forms of the disorder have been reported. These forms occur less frequently and have a longer course of progression. Is there any treatment? There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive.

3. Alexander Disease a CHORUS notecard document about alexander disease Disclaimer. Feedback. Search. alexander disease. dysmyelinating disease. rare, sporadic http://chorus.rad.mcw.edu/doc/00017.html

CHORUS Collaborative Hypertext of Radiology Nervous system Feedback Search Alexander disease dysmyelinating disease rare, sporadic usually presents in 1st year megalencephaly: gradual enlargement of head retardation, convulsion, spasticity CT findings: decreased density of white matter frontal lobe predominance +/- dilated lateral ventricles Dx: brain bx Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

4. The Family Village / Library / Leukodystrophy Resources on Adrenoleukodystrophy, alexander disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease. http://www.familyvillage.wisc.edu/lib_leukodystrophy.html

Leukodystrophy Types of Leukodystophy: Adrenoleukodystrophy, Alexander Disease, Canavan Disease, Krabbes Disease, Metachromatic Leukodystrophy, and Refsum's Disease Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Leukodystrophy" Who to Contact United Leukodystrophy Foundation (ULF) 2304 Highland Drive Sycamore IL 60718 (815) 895-2432 (fax) E-mail: ulf@tbcnet.com Website: http://www.ulf.org/ This is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease. In addition, it provides assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness; acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. The ULF is supported solely by donations. Where to Go to Chat with Others ULF List of Online Discussion Groups Krabbes E-mail Contacts Inborn Errors of Metabolism Discussion Groups Learn More About It Adrenoleukodystrophy From PEDBASE Alexander Disease From Online Mendelian Inheritance in Man (OMIM) Canavan Disease From Online Mendelian Inheritance in Man (OMIM) Canavan's Disease From PEDBASE Krabbe Disease From Online Mendelian Inheritance in Man (OMIM) Krabbes Disease: Basic Information From the Krabbes Disease Homepage Metachromatic Leukodystrophy From PEDBASE

5. Alexander Disease white matter disorders include Alexander's disease, Canavan disease, Cockayne's syndrome, and PelizaeusMerzbacher's http://www.healthieryou.com/alexander.html

Select One Contact CME? Order? Register? Place an Ad? Print Pages? Ask an Expert? More... ADD/ADHD Alcoholism Alzheimer's Anorexia Anxiety Bipolar Disorder Borderline Bulimia Children Compulsive Dementia Depression Dissociation Drug Abuse Eating Disorders Fear Forgetfulness Hyperactivity Mania Manic-Dep Mood Disorder Narcissistic Neurology Obsessive OCD Panic Paraphilias Phobia Personality Psychosis PTSD Schizophrenia Seasonal Mood Sexual Issues Social Phobia Suicidal Tic Disorders Violence Alexander Disease What is Alexander Disease? DESCRIPTION: Alexander disease is a rare, genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath, the fatty coveringwhich acts as an insulatoron nerve fibers in the brain. Alexander disease, which affects mostly males, usually begins at about 6 months of age. Symptoms may include mental and physical retardation, dementia, enlargement of the brain and head, spasticity (stiffness of arms and/or legs), and seizures. In addition to the infantile form, juvenile and adult onset forms of the disorder have been reported. These forms occur less frequently and have a longer course of progression. Is there any treatment?

6. NINDS Alexander Disease Information Page alexander disease information sheet compiled by NINDS. What is alexander disease? alexander disease is a rare, genetic, degenerative disorder of the nervous system. http://accessible.ninds.nih.gov/health_and_medical/disorders/alexand_doc.htm

Disorders - National Institute of Neurological Disorders and Stroke (NINDS) Skip menus Main sections of the NINDS web site Home About NINDS Disorders-you are in this section ... Find People Disorders section pages and search Image Description Science For the Brain The nation's leading supporter of biomedical research on disorders of the brain and nervous system. Select Topic Disorder Quick Links Alzheimer's Autism Cerebral Palsy Chronic Pain Epilepsy Headache Multiple Sclerosis Parkinson's Stroke Traumatic Brain Injury More about NINDS Alexander Disease Information Page Studies with patients Research literature Press release NINDS Search (search help) Contact us My privacy NINDS is part of the National Institutes of Health Contact us Content for this page NINDS Alexander Disease Information Page Reviewed 11-02-2001 Get Web page suited for printing Email this to a friend or colleague Table of Contents (click to jump to sections) What is Alexander Disease? Is there any treatment? What is the prognosis? What research is being done? ... Organizations What is Alexander Disease? Alexander disease is a rare, genetic, degenerative disorder of the nervous system. It is one of a group of genetic disorders called the leukodystrophies that affect growth of the myelin sheath — the fatty covering which acts as an insulator — on nerve fibers in the brain. Alexander disease, which affects mostly males, is usually nonfamilial and begins at about 6 months of age. Symptoms may include mental and physical retardation, dementia, enlargement of the brain and head, spasticity (stiffness of arms and/or legs), and seizures. In addition to the infantile form, juvenile and adult onset forms of the disorder have been reported. These forms occur less frequently and have a longer course of progression.

7. Leucodistrofie/ALEXANDER'S DISEASE astrocytes show marked changes. Histologically alexander disease is characterized by Rosenthal fibers, homogeneous http://www.peacelink.it/appeal/gianmarco/ii.html

a) Parametri Genetici delle Neuropatie Sensomotorie Ereditarie (HMSN) ii) MORBO DI ALEXANDER (ALEXANDER'S DISEASE) DEFINITION: A neurodegenerative disorder characterized by degeneration of CNS white matter and specific CNS pathological findings. EPIDEMIOLOGY: incidence: rare age of onset: newborn to adulthood (depends on the Form) risk factors: sporadic PATHOGENESIS: 1. Background unknown etiology but thought to involve dysfunctional astrocytes PATHOLOGY: 1. Rosenthal Fibres refractile eosinophilic hyaline bodies found within the cytoplasm of astrocytes particularly in the subpial, subependymal, and perivascular regions required for definite diagnosis but not pathognomonic as seen in other disorders as well, i.e., Neurofibromatosis, MS TYPES: Type I: Infantile Form Type II: Juvenile Form Type III: Adult Form CLINICAL FEATURES: 1. Type I - Infantile Form onset: mean of 6 months but can range from shortly after birth to 2 years of age most common of the 3 variants and most are male death in 2nd to 3rd years of age 1. Neurological Manifestations

8. NINDS - News And Events Health. Sorry! There are no press releases for alexander disease. Useyour browser's Back button to return to your previous activity. http://www.ninds.nih.gov/health_and_medical/news.htm?url=/health_and_medical/dis

9. Spongy Degeneration (Canavan Disease) megalencephaly (alexander disease only other degenerative neurological diseasein infants with big head!). blindness +/ deafness; hypotonia spasticity. http://chorus.rad.mcw.edu/doc/00378.html

CHORUS Collaborative Hypertext of Radiology Nervous system Feedback Search spongy degeneration (Canavan disease) autosomal recessive dysmyelinating disease onset at 2 - 9 months megalencephaly (Alexander disease only other degenerative neurological disease in infants with big head!) blindness +/- deafness hypotonia > spasticity Dx: brain bx centrum semiovale most severely affected Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

10. Alexander Disease / Library / The Family Village Library A B. alexander disease. alexander disease - Summary for Parents Fromthe alexander disease Project at the Waisman Center, University of Wisconsin. http://www.familyvillage.wisc.edu/lib_alex.html

Alexander Disease Who to Contact Learn More About It Research Web Sites ... Search Google for "Alexander Disease" Who to Contact United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 815-895-2432 (fax) E-mail: ulf@tbcnet.com Web: http://www.ulf.org/ The United Leukodystrophy Foundation (ULF), incorporated in 1982, is a nonprofit, voluntary health organization dedicated to providing patients and their families with information about their disease and assistance in identifying sources of medical care, social services, and genetic counseling; establishing a communication network among families; increasing public awareness and acting as an information source for health care providers; and promoting and supporting research into causes, treatments, and prevention of the leukodystrophies. Leukodystrophies are a group of genetic nervous system disorders affecting the myelin sheath, which insulates the axon through which nerve impulses are conducted. Learn More About It Alexander Disease - Summary for Parents From the Alexander Disease Project at the Waisman Center, University of Wisconsin Alexander Disease From Online Mendelian Inheritance in Man (OMIM) About Alexander Disease - Partners Leukodystrophy Service at MGH Research Alexander Disease Project Waisman Center, University of Wisconsin

11. ORPHANET® : Alexander Disease Translate this page ORPHANET. ORPHANET database access. alexander disease.Direct access to details Alias Home Page. http://www.orpha.net/static/GB/alexander.html

ORPHANET database access Alexander disease Direct access to details Alias : Home Page

12. Service Page - Pathologie Information DISEASE alexander disease, CIM E75.2, Alexander's disease was identified,in 1949, based on neurohistological criteria, ie, the http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=58

13. The Contact A Family Directory - ALEXANDER DISEASE printer friendly, alexander disease, In alexander disease, the growthof the white matter of the brain, or myelin sheath, is affected. http://www.cafamily.org.uk/Direct/a31.html

printer friendly ALEXANDER DISEASE home more about us in your area conditions information ... how you can help search this site Alexander disease is a rare genetic, degenerative disorder of the nervous system with effects on the mid brain and cerebellum; in the most common infantile form of the disease, the frontal white matter is involved. It is one of a group of genetic disorders called the leukodystrophies. The term leukodystrophy comes from the Greek words, 'leuko' meaning white and referring to the 'white matter' of the nervous system and 'dystrophy' meaning imperfect growth or development. In Alexander disease, the growth of the white matter of the brain, or myelin sheath, is affected. The brain stem may be particularly involved; in rare adult forms of the condition resulting in unusual signs such as flapping movement of the palate (palatal myoclonus), limb paralysis and clumsy movements. Cerebellar disease also occurs. The disease is due principally to mutations in a gene for glial fibrillary acidic protein (GFAP) that maps to chromosome 17q21; all mutations to date have been heterozygous. Mutations suspected in another gene, NADH-ubiquinone flavoprotein-1, have not been detected in the majority of Alexander disease patients. The onset of Alexander disease may occur at any time during infancy or adulthood. For many individuals onset is between birth and two years, with the average being six months. This infantile form of the disease affects boys and girls and leads to delayed development and dementia. The condition is characterised by an enlarged brain and head (megalencephaly), progressive spasticity (stiffness of the arms and/or legs)

14. CCHS Clinical Digital Library alexander disease Patient/Family Resources. Miscellaneous. Alexanders DiseaseAccess document. Miscellaneous alexander disease Patient/Family Resources http://cchs-dl.slis.ua.edu/patientinfo/metabolism/inborn/lipid/leukodystrophies/

Patient/Family Resources by Topic: Metabolic Disorders Alexander Disease Patient/Family Resources Miscellaneous See also: Mental Retardation Patient/Family Resources Genetic Testing Patient/Family Resources General Genetic Disorders Patient/Family Resources General Metabolic Disorders Patient/Family Resources ... Alexander Disease Clinical Resources Na tional Institute of Neurological Disorders and Stroke: Homepage Disorders Information: List of documents Alexander Disease: Access document United Leukodystrophy Foundation: Homepage Introductions to the Leukodystrophies: Access document Alexanders Disease: Access document Miscellaneous Alexander Disease Patient/Family Resources The Family Village Library - Specific Diagnoses Card Catalog Table of contents Leukodystrophy: Access document Healthfinder (US DHHS): Homepage Genetics: List of documents National Library of Medicine MEDLINE plus Health Topics: Index Genetic Testing/Counseling: List of documents Genetic Disorders: List of documents Birth Defects: List of documents YAHOO - Health:Diseases and Conditions:Genetic Disorders Additional Genetic Disorders resources ( These sites have not been reviewed.

15. CCHS Clinical Digital Library Disorders. alexander disease Clinical Resources. Pediatric Database (PEDBASE)List of documents Alexander's Disease Access document. Radiology http://cchs-dl.slis.ua.edu/clinical/metabolism/inborn/lipid/leukodystrophies/ale

Clinical Resources by Topic: Metabolic Disorders Alexander Disease Clinical Resources Pediatrics Radiology Pathology Genetics ... Miscellaneous Resources See also: Genetic Testing Clinical Resources Mental Retardation Clinical Resources General Genetic Disorders Clinical Resources General Metabolic Disorders Clinical Resources ... Alexander Disease Patient/Family Resources Goetz: Textbook of Clinical Neurology 1st Ed.-1999 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 30 - Storage Diseases: Neuronal Ceroid-Lipofuscinoses, Lipidoses, Glycogenoses, and Leukodystrophies: Access document Leukodystrophies: Access document Goldman: Cecil Textbook of Medicine 21st Ed.-2000 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 201 - Approach to the Patient with Metabolic Disease Access document Other MD Consult Reference Books: Table of contents Health Sciences Library subscription INFO All MD Consult Reference Books for Neurology (eMedicine): Table of contents Inherited Metabolic Disorders: Access document Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes: List of documents Alexander Syndrome: Access document CliniWeb: Homepage (includes links to targeted PubMed MEDLINE searches) Lysosomal Storage Diseases: List of documents Pediatrics Resources See also General Pediatrics Resources Behrman: Nelson Textbook of Pediatrics 16th Ed.-2000 (MD Consult):

16. Science News Genetic Basis of alexander disease Discovered January 4, 2001 0818 CDT Solving a50year-old mystery, scientists have recently pinpointed the gene responsible http://www.cosmiverse.com/science01040104.html

TM Site Menu: Your Personal Links: Click here to visit your home page and other personal links Community Features: Cosmiverse Marketplace Shop for Everything Under the Sun at the Cosmiverse Marketplace! Earn money while you shop! Image of the Day Member Gallery Virtual Cards Ask a Scientist ... MECA - May Everyone Connect Always Launch your "Cosmic Messenger" and talk to the world! Special Features: CosmiFiction Today's Story: Toad by Burk Stone Your Sky Tonight Locate the stars where you live ISS Updates ISS Mission status reports, imagery and more Shuttle Missions Updates and imagery on current missions Future Missions Data and photos outlining upcoming missions Farewell Mir Mir Image Gallery and More! Learn More: Cosmiverse in the Classroom Cosmikids A Great Place for Cosmic Kids! Solar System Tours Interactive Tours of our Solar System as well as selected Lunar Tours Reference Library More than 900 pages of reference material! Image Galleries Over 2000 images! Search Tools: Search WWW Search Cosmiverse Cosmiverse Database Yellow Pages People Search Business Search Shopping: Cosmiverse Marketplace Shop for Everything Under the Sun at the Cosmiverse Marketplace!

17. Alexander Disease alexander disease. What is alexander disease? alexander disease isa rare, genetic, degenerative disorder of the nervous system. http://www.clevelandclinic.org/health/health-info/docs/1200/1245.asp?index=6027

18. Show-documents.asp alexander disease Written Information. Care Treatment., alexander disease. New Search. Health Extra Menu. http://www.clevelandclinic.org/healthextra/do-query.asp?TopicId=1272

19. Alexander Disease / Waisman Center http://www.waisman.wisc.edu/alexander/

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20. Alexander Disease Bibliography By Topic alexander disease GFAP mutations unify young and old. Lancet Neurology. Li, R.,Messing, A., Goldman, JE Brenner, M. GFAP mutations in alexander disease. http://www.waisman.wisc.edu/alexander/bib-topic.html

Recent Reviews Genetics Familial - Putative Familial Adult Onset Recent Reviews Messing, A. and Brenner, M. Alexander disease: GFAP mutations unify young and old. Lancet Neurology GFAP mutations in Alexander disease. International Journal of Developmental Neuroscience A. B. Johnson. Alexander disease: a review and the gene Int.J.Dev.Neurosci. Alexander disease: new insights from genetics. Journal of Neuropathology and Experimental Neurology Quinlan, R. (2001). Cytoskeletal catastrophe causes brain degeneration Nature Genetics Small heat shock proteins, the cytoskeleton, and inclusion body formation. Genetics Shiroma, N., Kanazawa, N., Kato, Z., Shimozawa, N., Imamura, A., Ito, M., Ohtani, K., Oka, A., Wakabayashi, K., Iai, M., Sugai, K., Sasaki, M., Kaga, M., Ohta, T., and Tsujino, S. (2003). Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L Identification of GFAP gene mutation in hereditary adult-onset Alexander's disease Annals of Neurology Infantile Alexander disease: a GFAP mutation in monozygotic twins and novel mutations in two other patients Neuropediatrics Sawaishi, Y., Yano, T. , Takaku, I., and Takada, G. (2002).

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