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
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
Extractions: : 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.
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
Extractions: 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.
Neurogenetics Friedreichs Ataxia * Cerebellar degeneration (OPCA) * Spastic Ataxia * Inheriteddiseases other than spinocerebellar degenerations * Huntington's Chorea http://neurology.medsch.ucla.edu/neurogen.htm
Extractions: 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.
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
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
Extractions: 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
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
Extractions: 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.
Extractions: 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.
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
Extractions: 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. 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).
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
Extractions: Clinical Resources by Topic: Neurology Ataxia Clinical Resources Pediatrics Geriatrics Pathology Genetics ... Miscellaneous Resources See also: Chapter 364: Ataxic Disorders Table of contents The Inherited Ataxias: Access document Machado-Joseph Disease/SCA3: Access document Access document Autosomal Recessive Ataxias: Access document Ataxia Telangiectasia: Access document Mitochondrial Ataxias: 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:
Extractions: Protocol Number: 02-N-0185 The Efficacy of High-Dose Intravenous Immunoglobulin Therapy In Patients With Cerebellar Degeneration: A Double Blind, Placebo Controlled Trial 02-N-0185 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.
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
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
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
Extractions: 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.