21. NIH Guide: THE HEREDITARY ATAXIAS INCLUDING MACHADO-JOSEPH DISEASE The hereditary ataxias, in general, encompass a variety of degenerative disorders,interchangeably referred to as spinocerebellar degenerations, that are http://grants.nih.gov/grants/guide/pa-files/PA-92-048.html

Return to 1992 Index Return to NIH Guide Main Index Department of Health and Human Services National Institutes of Health (NIH) 9000 Rockville Pike Bethesda, Maryland 20892

22. Re: Olivopontocerebellar Atrophy Dear Dave Cerebellar degenerations (also called spinocerebellar degenerations)can either be sporadic or heredofamilial. Heredofamilial http://www.medhelp.org/forums/neuro/archive/15044.html

Advertisement Welcome to Med Help International A not-for-profit organization Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Re: Olivopontocerebellar atrophy Forum: The Neurology and Neurosurgery Forum Topic Area: Ataxia Posted by CCF Neurology MD:NT on January 11, 1999 at 20:32:38: In Reply to: Olivopontocerebellar atrophy posted by Dave Felten on January 11, 1999 at 00:59:31: : Hello: : Can you tell me what diagnostic test currently are used to diagnose and confirm OPCA? : Thank you very much!! Dear Dave: Cerebellar degenerations (also called spinocerebellar degenerations) can either be sporadic or heredofamilial. Heredofamilial cerebellar degenerations can be either autosomal dominant (various types termed spinocerebellar ataxia = SCA 1 - 7, DRPLA, Machado-Joseph disease, etc) or autosomal recessive (Friedreich's ataxia, and some other rare types). The syndrome of progressive ataxia (imbalance of gait, incoordination of hands, slurred speech), in association with some other characteristic abnormalities (peripheral neuropathy, optic atrophy, retinitis pigmentosa, dementia, corticospinal dysfunction, oculomotor dysfunction, etc) is seen with heredofamilial forms. Ataxia is associated with autonomic dysfunction and/or parkinsonian features in sporadic cases. Either sporadic or autosomal dominant forms of cerebellar degeneration can be associated with atrophy of the cerebellum, pons and inferior olives, either on MRI, or at autopsy. Hence, OPCA (olivopontocerebellar atrophy) is used as a descriptive term for these disorders.

23. Save On Health Books Concerning Ataxia We add new books regularly. Previous Page 2 of 2 spinocerebellar degenerationsTokyo, 1978. International Symposi Um On spinocerebellar degenerations. http://www.healthlinkusa.com/bookpage/30_2.html

FREE. Would you like your site listed on HealthlinkUSA. Click here Today's Health Facts Find Drug Information ... Talk Health Monday March 31, 2003 Save on 1,000's of health books concerning 100's of different health topics! Ataxia Books Register here. It's Free! Be notified when there are updates to Ataxia books. Enter to Win a CD Player! To learn more about an individual book, or to make a purchase, just click on the title. Tell A Friend! Take a minute to tell a friend about HealthlinkUSA. Enter to Win a CD! Check all the Ataxia book pages for the largest selection. HealthlinkUSA site last updated: Monday March 31, 2003 Visit At Least Once A Week! We add new books regularly. Previous Page 2 of 2 Spinocerebellar Degenerations Tokyo, 1978. International Symposi Um On Spinocerebellar Degenerations Hereditary Neuropathies And Spinocerebellar Atrophies (handbook Of Clinical Neurology, Vol 60) Pierre J. Vinken, Et Al / Hardcover / Published 1991 The Hereditary Ataxias And Related Disorders (clinical Neurology And Neurosurgery Monographs, Volume 6) A.e. Harding / Hardcover / Published 1984 Trh And Spinocerebellar Degeneration Itsuro Sobue(editor) / Hardcover / Published 1986 Previous Visit HealthlinkUSA Excellent Health Information concerning treatment, prevention, personal stories, research, support, email groups and much more. Updated regularly.

24. Entrez-PubMed genetics; Male; Middle Age; Pedigree; Phenotype; Point Mutation/genetics*;spinocerebellar degenerations/genetics*; Support, NonUS Gov http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

25. Ataxia : A Serious Medical Condition. Resources To Obtain And Further Understand spinocerebellar degenerations Tokyo, 1978. International Symposium onspinocerebellar degenerations. Ten Years to Live Henry J. Schut. http://databank.oxydex.com/compendium_bibliographium/advanced_medical_specialtie

ataxia : A serious medical condition. Resources to obtain and further understanding of the topic. A starting point for researchers, physicians, medical school students, health and policy professionals, and other biotechnology and science professionals. (Not recommended to the lay public). Special Item Alerts - These deserve your attention. Are you looking for a great quote? Check Only for those who rule ... For you and real friends! Training in Sport: Applying Sports Science ... A must have resource - its a bit more expensive than a cheeseburger or a popular bestseller - but can you afford to ignore the winner's edge? The Merck Manual of Diagnosis and Therapy The most widely used medical reference in the world; your doctor uses it. What about you? Cross-Training for Sports: Programs for 26 Sports ... ATC: A great source of neat stuff, deserves an occasional visit Recommended Readings Best Software! ANIME: Adventure Kid Anime Beast City Demon Beast ... Tales of Tokyo ART: Salvatore Dali DeChirico Rodin Magritte ... Modeglian i BIO / BIOCHEM: PCR (Polymerase Chain Reaction) Genetics BUSINESS: On-Line Marketing Capital Markets More on Marketing Time Management ... Chinese Economy CARS: ALL ABOUT ALL THE CARS BMW SAAB Luxury Cars ... Automotive Links EDUCATION: Distance Learning Research Online Home Schooling CREATIVITY and INNOVATION ELECTRONICS: TTL (Transistor-Transistor Logic) Electronic Circuit Design CMOS (Complementary Metal-Oxide-Silicon) NEW ** DIRECT CONNECT ** Top Selling Home Improvement Top Selling Consumer Electronics Top 100 Hot DVDs Top 100 Hot Books ... Top 100 Hot CDs Consider this great treasure by composer Frederic Chopin. Performed by the leading world orchestras.

26. Neurogenetics Friedreichs Ataxia * Cerebellar degeneration (OPCA) * Spastic Ataxia * Inheriteddiseases other than spinocerebellar degenerations * Huntington's Chorea http://neurology.medsch.ucla.edu/neurogen.htm

Neurogenetics Director: Dan Geschwind, M.D. PhD. Susan Perlman, M.D. Colleagues: Stephen Cedarbaum, M.D. Wayne Grody, M.D. Stanley Nelson, M.D. Steffan Pulst, M.D. Clinical Services The Neurogenetics Program provides diagnosis, family counseling, and treatment for patients with inherited disorders of the nervous system. Many patients with difficulty walking, or ataxia, are referred for evaluation to determine if there is a genetic component. Common conditions include: * Spinocerebellar Ataxia * Friedreichs Ataxia * Cerebellar degeneration (OPCA) * Spastic Ataxia * Inherited diseases other than spinocerebellar degenerations * Huntington's Chorea * Chariot-Marie-Tooth disease * Mitochondrial diseases * Von Hippel Lindow disease * Unknown conditions needing diagnosis with symptomatology of ataxia or tremor A multidisciplinary team of specialists, including a clinical nurse specialist, a clinical social worker, a nutritionist, and physical and occupational therapists work with the physician to establish diagnosis and orchestrate the associated treatment plan. This team also works with the referring physician and resources available in the community to coordinate follow-up care as needed. The Neurogenetics Program is designated as a referral center for the State of California's Genetically Handicapped Persons Program (GHPP) and receives referrals from around the world. It is also affiliated with the National Multicenter Huntington's Study Group.

27. ClinicalTrials.gov - Linking Patients To Medical Research: Results Disease. 4. Recruiting, HighDose Intravenous Immunoglobulin to TreatCerebellar Degeneration Condition spinocerebellar degenerations. 5 http://www.clinicaltrials.gov/search/term=Ataxia

Home Search Browse Resources ... About Search results for Ataxia [ALL-FIELDS] are shown below. Show all trials, including those no longer recruiting patients. 7 studies were found. Recruiting Safety Study of Idebenone to Treat Friedreich's Ataxia Condition: Friedreich Ataxia Recruiting Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 10 (SCA10) Condition: Hereditary Ataxia Recruiting Exploration of Transitional Life Events in Individuals with Friedreich's Ataxia: Implications for Genetic Counseling Recruiting Study of Inherited Neurological Disorders Conditions: Ataxia; Motor Neuron Disease; Muscular Disease; Muscular Dystrophy; Peripheral Nervous System Disease Recruiting High-Dose Intravenous Immunoglobulin to Treat Cerebellar Degeneration Condition: Spinocerebellar Degenerations Not yet recruiting Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Patients With Neuroblastoma Conditions: localized resectable neuroblastoma; regional neuroblastoma; disseminated neuroblastoma; stage 4S neuroblastoma; localized unresectable neuroblastoma Recruiting Phenotype/Genotype Correlations in Movement Disorders Condition: Movement Disorder U.S. National Library of Medicine

28. ClinicalTrials.gov - Linking Patients To Medical Research: Study Details blood tests repeat ataxia assessments to evaluate the effects of treatment.Condition, Phase. spinocerebellar degenerations, Phase II. http://www.clinicaltrials.gov/ct/gui/show/NCT00034242?order=4

29. Macular Disorder Bower Home Health_Conditions - spinocerebellar degenerations. search Find theMost Popular Books, Videos and DVDs on spinocerebellar degenerations. http://www.drummerstuff.com/four-corner-paper-company.htm

30. DeCS - Changed Terms SINUS THROMBOSIS, SINUS THROMBOSIS, INTRACRANIAL. SPINOCEREBELLAR DEGENERATION,spinocerebellar degenerations. STIFFMAN SYNDROME, STIFF-PERSON SYNDROME. http://decs.bvs.br/I/rep_i2000.htm

31. GeneReviews : Hereditary Ataxia Overview review. Free access to the fulltext version of the review requiresbrief registration. spinocerebellar degenerations / genetics. http://omni.ac.uk/whatsnew/detail/4002968.html

Back to whats new page. GeneReviews : hereditary ataxia overview Notes for physicians on hereditary ataxia. This document includes diagnosis, a clinical description, differential diagnosis, management, genetic counselling, and molecular genetics. Posted in September 1998 (revised September 2001), this resource forms part of GeneReviews (formerly GeneClinics profile), a peer-reviewed clinical genetic information resource that is funded by the US National Institutes of Health (NIH) and produced by the University of Washington, Seattle. This resource contains a summary and bibliographical references of the review. Free access to the full-text version of the review requires brief registration. Spinocerebellar Degenerations / genetics Last modified 26/Apr/2002 [Low Graphics]

32. Understanding Dementia and Pick's disease, subcortical dementia may be caused by Parkinson's disease, Huntington'sdisease, Wilson's disease, spinocerebellar degenerations, Lewy body http://www.flonnet.com/fl2006/stories/20030328001108000.htm

Volume 20 - Issue 06, March 15 - 28, 2003 India's National Magazine from the publishers of THE HINDU Home Contents MEDICINE Understanding dementia ASHA KRISHNAKUMAR in Chennai An international workshop in Chennai on dementia underlines the need to create awareness about the problem and improve treatment options and facilities, especially in developing countries like India. N. BALAJI At the 23rd T.S. Srinivasan Endowment Oration on Dementia in Chennai, Venu Srinivasan (left) presenting a memento to Prof. Jeffrey Cummings. Prof. Krishnamoorthy Srinivas (second right) and T.T. Vasu, Chairman, Public Health and Welfare Society look on. IN 1950, the world had 12 people in the working age group to support every person above 65. But by the turn of the millennium, there were hardly nine, and by 2050, it is estimated that there will be barely four persons. With life expectancy at birth increasing rapidly, the world's population of the aged has risen, and with it, their problems. In India, life expectancy at birth has increased by 30 years since Independence, and it is higher for women than men. According to the World Health Organisation (WHO), India's population of those aged over 65, which was 40 million in 1997, is to increase to 108 million by 2025 and 240 million by 2050. This means a several-fold increase in age-related problems such as dementia - a condition characterised by progressively declining memory and intellectual functions. The WHO, which estimates that two out of every three patients with dementia will soon be in developing countries, warns of a virtual dementia epidemic in India and the urgent need to prepare to face it.

33. Dementia Is A Clinical Syndrome Characterized By Acquired Losses Of Cognitive An EPF. spinocerebellar degenerations memory and frontal dysfunction+ cerebellar signs. Idiopathic basal ganglia calcifications. http://www.indegene.com/Psy/FeatArt/indPsyFeatArt4.html

Dementia Approach To Evaluation Department of Neurology All India Institute of Medical Sciences New Delhi Dementia is a clinical syndrome characterized by acquired losses of cognitive and emotional abilities severe enough to interfere with daily functioning. Dementing illness is an important cause of disability in the elderly. With improving medical facilities and an increasing life expectancy, the number of patients with demential is expected to rise. The care of these patients will have a growing impact and will pose an increasing burden on the family, the health care systems and the society. Epidemiology The prevalence rates according to western studies range from 5-10 percent for all persons over the age of 65 years. These rates appear to double roughly every 5 years to reach 25-50 percent for persons over 85 years of age . The exact prevalence of these disorders in India is difficult to guess, as no recent population based prevalence study has been published. However, in a population-based survey reported in 1981, of 18,721 individuals, 861 were above the age of 60 years. Of these 181 randomly selected individuals, 6 percent were found to be demented . Most of the other studies conducted in India are inadequate as the validity of the criteria used to define and assess dementia needs to be questioned. Another confounding factor is the diversity of educational status and literacy in our population. There is also a general belief that the amount of vascular dementias (VaD) would outnumber the Alzheimer's dementias (AD) in our population.

34. Journal,Indian Academy Of Clinical Medicine EPF. spinocerebellar degenerations memory and frontal dysfunction+ cerebellar signs. Idiopathic basal ganglia calcifications. http://www.indegene.com/jiacm/indJIACMDementia.html

Volume 1 No 2 An Official Publication of Indian Academy of Clinical Medicine July-September 2000 Governing Body Editorial Board Advisory Board Home Review Article Dementia : Approach to Evaluation M Tripathi*, MV Padma**, S Jain***, MC Maheshwari*** * Assistant Professor ** Associate Professor *** Professor Department of Neurology, AIIMS, New Delhi-110029. Dementia is a clinical syndrome characterized by acquired losses of cognitive and emotional abilities severe enough to interfere with daily functioning. Dementing illness is an important cause of disability in the elderly. With improving medical facilities and an increasing life expectancy, the number of patients with dementia is expected to rise. The care of these patients will have a growing impact and will pose an increasing burden on the family, the health care systems and the society. Epidemiology Definition Classification The classification of any disorder allows for a rational approach to the diagnosis of dementia. Broadly, dementias may be classified as cortical and subcortical. Table I, gives a brief outline to distinguish between the two. Though later on, in any given group, the clinical features overlap and there may be features of both. This type of approach probably helps us in defining the clinical syndrome and is hence a clinical, not an anatomical concept (5).

35. Florida State University College Of Medicine Digital Library spinocerebellar degenerations Access document. Family Practice Handbook4th Ed.2001 Table of contents Chapter 9 Neurology Table http://fsumed-dl.slis.ua.edu/clinical/neurology/cns/ataxia.htm

Clinical Resources by Topic: Neurology Ataxia Clinical Resources Pediatrics Geriatrics Pathology Genetics ... Miscellaneous Resources See also: Neurological Clinical Procedure Resources General Neurology Clinical Resources Ataxia Patient/Family Resources Harrison's Principles of Internal Medicine 15th Ed.-2001: Table of contents Medical Library subscription INFO Chapter 22: Weakness, Myalgias, Disorders of Movement, and Imbalance Table of contents Introduction: Access document Imbalance and Disorders of Gait: Access document Introduction: Access document Pathogenesis: Access document Approach to the Patient: Access document Chapter 364: Ataxic Disorders Table of contents Approach to the Patient: Access document Symmetric Ataxia: Access document Focal Ataxia: Access document The Inherited Ataxias: Access document Introduction: Access document Autosomal Dominant Ataxias: Access document Introduction: Access document Access document Genetics: Access document Access document Genetics: Access document Machado-Joseph Disease/SCA3: Access document Genetics: Access document Access document Autosomal Recessive Ataxias: Access document Friedreich's Ataxia: Access document Genetics: Access document Ataxia Telangiectasia: Access document Genetics: Access document Mitochondrial Ataxias: Access document Treatment: Access document Chapter 363: Parkinson's Disease and Other Extrapyramidal Disorders Table of contents Machado-Joseph Disease (Spinocerebellar Ataxia Type 3): Access document Drug-Induced Movement Disorders: Access document Treatment: Access document Neuroleptic Malignant Syndrome:

36. Clinical Study: 02-N-0185, The Efficacy Of High-Dose Intravenous Immunoglobulin IVIG SCA Recruitment Keywords Cerebellar Degeneration Cerebellar Ataxia AtaxiaCerebellum Conditions spinocerebellar degenerations Investigational Drug(s http://clinicalstudies.info.nih.gov/detail/A_2002-N-0185.html

Protocol Number: 02-N-0185 Title: The Efficacy of High-Dose Intravenous Immunoglobulin Therapy In Patients With Cerebellar Degeneration: A Double Blind, Placebo Controlled Trial Number: 02-N-0185 Summary: This study will examine whether high-dose intravenous immunoglobulin (IVIG) is safe and effective for treating cerebellar ataxia-degeneration of the cerebellum, the part of the brain responsible for coordinating muscle movements and balance. The disease causes a slowly progressive impairment of speech and balance, with patients often developing slurred speech, tremor, clumsiness of the hands, and walking difficulties (ataxia). IVIG is derived from donated blood that has been purified, cleaned and processed into a form that can be infused. IVIG is an immune suppressant that is routinely used to treat other neurological conditions. Patients 18 years of age and older with hereditary (genetic) or sporadic (unknown cause) cerebellar degeneration may be eligible for this 5-month study. They must have evidence of an immune component to their condition, such as gluten sensitivity or antiganglioside antibodies. Candidates will be screened with a neurological examination, a review of medical records and possibly blood tests. Participants will be randomly assigned to receive infusions of either IVIG or placebo (an inactive substance) through an arm vein once a month for two months. The infusions will be given in the hospital in doses divided over 2 days, each lasting 6 to 10 hours. Before the infusions, patients will undergo ataxia assessments through tests of coordination and balance that may involve finger tapping, walking in a straight line, talking, and eye movements. When the treatment is finished, patients will be followed in the clinic once a month for 3 months for blood tests repeat ataxia assessments to evaluate the effects of treatment.

37. Listings Of The World Health Conditions And Diseases Listings World Health Conditions and Diseases Neurological Disorders SpinalCord spinocerebellar degenerations Friedreich Ataxia. http://listingsworld.com/Health/Conditions_and_Diseases/Neurological_Disorders/S

38. Listings Of The World Health Conditions And Diseases Search, Complete Directory. Subcategories Compression (4) Epidural Abscess(4), spinocerebellar degenerations (7), Tabes Dorsalis (3). http://listingsworld.com/Health/Conditions_and_Diseases/Neurological_Disorders/S

39. SpringerLink: Acta Neuropathologica - Abstract Volume 97 Issue 3 (1999) Pp 306-3 This widespread degeneration pattern goes clearly beyond purely cerebellar degenerationssuch as SCA5 and 6 and beyond spinocerebellar degenerations such as http://link.springer-ny.com/link/service/journals/00401/bibs/9097003/90970306.ht

Acta Neuropathologica ISSN: 0001-6322 (printed version) ISSN: 1432-0533 (electronic version) Table of Contents Abstract Volume 97 Issue 3 (1999) pp 306-310 regular paper : Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies (1) Institute of Neurology and Neurosurgery, Havana, Cuba (4) Lab 49 3A18, National Human Genome Research Institute, NIH, 49 Convent Drive MSC 4476, Bethesda, MD 20892, USA e-mail: auburger@nhgri.nih.gov, Tel.: +1-301-4022472, Fax: +1-301-4024929 Received: 16 June 1998 / Revised, accepted: 17 August 1998 Abstract Key words Article in PDF format (43 KB) Online publication: February 1, 1999 SpringerLink Helpdesk

40. Intramural Research Program - Katsutoshi Furukawa, M.D., Ph.D. of agerelated neurodegenerative disorders, including Alzheimer's disease, Parkinson'sdisease, Huntington's disease, spinocerebellar degenerations, and stroke http://www.grc.nia.nih.gov/branches/irp/kfurukawa.htm

Laboratory of Neurosciences Intramural Program Investigators ^ Home ^ Katsutoshi Furukawa, M.D., Ph.D., Investigator Head, Synaptic Physiology Unit Dr. Furukawa received his M.D. degree from Yamagata University in Japan in 1988 and his Ph.D. in Neuroscience from Tohoku University School of Medicine in 1992. He performed postdoctoral studies with Dr. Mark Mattson at the Univesity of Kentucky Medical Center and was an Assistant Research Professor at the University of Washington in Seattle. His work in Seattle focused on mutations in the microtuble-associated protein tau that cause an inherited form of dementia. Dr. Furukawa moved back to Japan in 1998 to work on his clinical medicine practice as a neurologist and to continue his research on tau mutations. He joined the Laboratory of Neurosciences in 2001 as a tenure-track investigator responsible for developing a Synaptic Physiology Unit. Research Interests: A unique feature of the central nervous system, that is largely responsible for both the speed and complexity of inter-cellular signaling in this organ system, is the synapse. Synapses are the sites where various neurotransmitters, neuropeptides, and neurotrophic factors act to regulate neuronal development and survival. Signaling at synapses controls all of our intellectual, sensory, motor, and neuroendocrine activities. Alterations in synaptic structure and function occur during normal aging, and increasing evidence suggests that abnormalities in synaptic signaling play major roles in the pathogenesis of age-related neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease, Huntington's disease, spinocerebellar degenerations, and stroke.

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