61. ±i¤Õ¬LÁ¿¸q palsy Corticobasal degeneration ShyDrager syndrome Olivopontocerebellar atrophyHuntington disease spinocerebellar degenerations Spinocerebellar ataxias http://www.ncku.edu.tw/~nckmpat/teacher/paper-chang.htm

Peripheral Nerve and Skeletal Muscle Normal structure Normal peripheral nerve Normal skeletal muscle General reactions of the motor unit Segmental demyelination Axonal degeneration and muscle fiber atrophy Nerve regeneration and reinnervation of muscle Reactions of the muscle fiber Diseases of peripheral nerve Inflammatory neuropathies Immune-Mediates Neuropathies Guillain-Barr¡¦e Syndrome (Acute inflammatory demyelinating polyradiculoneuropathy) Chronic inflammatory Demyelinating Polyradiculoneuropathy Infectious polyneuropathies Leprosy Diphtheria Varicella-Zoster Virus Hereditary neuropathies Hereditary motor and sensory neuropathy I (HMSN I, CMTI) Other hereditary motor and sensory neuropathies HMSN II Dejerine-Sottas Disease (HMSN III) Acquired metabolic and toxic neuropathies Peripheral neuropathy in adult-onset diabetes mellitus Metabolic and nutritional peripheral neuropathies Neuropathies associated with malignancy Toxic neuropathies Traumatic neuropathies Tumors of peripheral nerve Diseases of skeletal muscle Denervation atrophy Spinal muscular atrophy (Infantile motor neuron disease) Muscular dystrophies X-linked muscular dystrophy (Duchenne muscular dystrophy and Becker muscular dystrophy) Autosomal muscular dystrophies Myotonic dystrophy Ion channel myopathies (Channelopathies) Congenital myopathies Myopathies associated with inborn errors of metabolism Lipid myopathies Mitochondrial myopathies (Oxidative phosphorylation diseases) Inflammatory myopathies

62. WebGuest - Open Directory : Health : Conditions And Diseases : Neurological Diso Myelitis@ (6). Spinal Muscular Atrophy@ (11); spinocerebellar degenerations (5);StiffPerson Syndrome@ (4); Syringomyelia@ (4); Tabes Dorsalis (2). See also http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Neurologi

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Top Health Conditions and Diseases Neurological Disorders : Spinal Cord Amyotrophic Lateral Sclerosis Compression Epidural Abscess Injury ... Tabes Dorsalis See also: Health: Conditions and Diseases: Musculoskeletal Disorders: Back and Spine Sites: Spinal Cord Arteriovenous Malformations - Support, links and information on spinal cord and other AVMs. Patient-oriented site Spinal Injuries Association - Offers a Spinal Chat Room, a Bulletin Board and factsheets for people with spinal injuries, paraplegics, tetraplegics, wheelchair users and walkers. Last update: 21:54 PT, Wednesday, March 5, 2003 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

63. Differential Diagnosis Of PD And Parkinsonism Plus Syndromes Extensive article by Mark Stacy, MD Conditions and Diseases Neurodegenerative Diseases...... parkinsonism Huntington's disease Wilson's disease HallervordenSpatz disease Olivopontocerebellarand spinocerebellar degenerations Familial basal ganglia http://www.parkinsons-information-exchange-network-online.com/archive/091.html

P-I-E-N-O in partnership with Healthology offers on demand webcasts about your condition. Use the pulldown box to select your condition. P-I-E-N-O Home Parkinsn Current Topics Drug Database Index Select a Focus Topic Allergy Alternative Medicine Arthritis Asthma Beyond Dieting Body Aches and Pains Breast Cancer Cancer Awareness Cardio Health Children's Health Colon Cancer Contraception COPD/Emphysema Dental Health Diabetes Elder Care Emergency Room Epilepsy Erectile Dysfunction Eye Care Fertility Fitness Gastrointestinal Health Glands and Hormones Gynecologic Health Hair Loss Headache Health care Today Healthy Aging HIV and AIDS Infectious Diseases Kidney Health Leukemia Liver Health Lung Cancer Lymphoma Overview Multiple Sclerosis Men's Health Mental Health Nutrition Osteoporosis Parkinson's Disease Sexual Health Skin Health Sleep Disorders Special Events Stroke Surgeries and Procedures Teen Health Thyroid Health Urologic Health Vascular Health Women's Health Workplace Health Parkinsn Current Topics DIFFERENTIAL DIAGNOSIS OF PARKINSON'S DISEASE AND THE PARKINSONISM PLUS SYNDROMES Table 1. ETlOLOGIC CATEGORIES OF PARKINSONISM*

64. Ataxia Resource Updates by Patricia Birdsong Hamilton The Clumsy Child A Study of Developmental Apraxicand Agnostic Ataxia by Sasson S. Gubbay spinocerebellar degenerations by Tokyo http://www.health.xq23.com/inst/Research_Updates/Ataxia.html

Ataxia resources. Information for medical researchers, health professionals, bioscientists, and policy makers. Recommended References. [see index for total category] KEY ABSTRACTS: PUBMED Citations: Innovations and emerging technologies in Ataxia, Patent List (when available) for Ataxia: 6,472,436: Methods for protecting cells from amyloid toxicity and for inhibiting amyloid protein production 6,472,414: Conformationally restricted aromatic inhibitors of microsomal triglyceride transfer protein and method 6,472,388: Aralkyl and aralkylidene heterocyclic lactams and imides 6,472,378: Compositions and methods for treatment of mitochondrial diseases 6,472,212: Methods and compositions for genetically modifying primate bone marrow cells 6,472,178: Nucleic acids encoding a modified ciliary neurotrophic factor and method of making thereof 6,472,172: DNA encoding a novel human inhibitor-of-apoptosis protein 6,472,170: BCL-XY, a novel BCL-X isoform, and uses related thereto 6,472,165: Modulatory binding site in potassium channels for screening and finding new active ingredients 6,472,154: Polymorphic repeats in human genes

65. Ìܼ¡°ìÍ÷ ?( Electrophysiological Studiesin spinocerebellar degenerations ), ? 0000297982 ?(JPN). http://www.nii.ac.jp/sokuho/articles/ncid/AN10402438/19920000_18.html

(¾¤ÎNII¥µ¡¼¥Ó¥¹ ¢ª Webcat NACSIS-ELS NACSIS-IR NACSIS-OLJ ... Ìܼ¡Â®ÊóHome ¡¡We don't hold articles in this page but table of contents only. Please ask for your nearest library about photocopies. ( Terasawa Fumiko / Uchikawa Noriko / Nomoto Shozo ) ¹â®±ÕÂÎ¥¯¥í¥Þ¥È¥°¥é¥Õ¥£¡¼¤Ë¤è¤ë·ìÀ¶¤ª¤è¤Ó´ÎÁÈ¿¥æ¦Á¡Ý¥È¥³¥Õ¥§¥í¡¼¥ë(¥Ó¥¿¥ß¥óE)ÄêÎÌË¡¤Î¸¡Æ¤ ( Studies on the HPLC Method for Determination of ¦Á-Tocopherol(Vitamine E) in Serum and Liver Tissues. ) ¡Ú 0000297976 ¡Û(JPN) ( Kameko Fumiko / Uehara Yoshio ) ( Augmentation of Antibody Response of Immune Complex-Ingested Mononuclear Cells(MNC) by Antigen Specific Antibody ) ¡Ú 0000297977 ¡Û(JPN) ( Kaneyoshi Akio / Shinohara Shio / Yasuo Yoshida et al. ) ( Clinical Evaluation of Semiconductor Biosensor ) ¡Ú 0000297978 ¡Û(JPN) ( Asahara Kiyomi / Yamazaki Akie / Murota Noriko ) ( Study on the Nursing Students' Image of Surgery Nursing (First Report) : Factor Analysis of the Image and Analyses of Factors Affecting the Image Before Clinical Nursing Practice ) ¡Ú 0000297979 ¡Û(JPN) ( Kondo Hiroko / Naito Tetsuo / Asahara Kiyomi et al. )

66. DEMENTIA (I): INTRODUCTION, CLASSIFICATION Translate this page diseases, as well as in rarer extrapyramidal syndromes, eg, progressive supranuclearpalsy, striatonigral degeneration, spinocerebellar degenerations, and a http://www.fonendo.com/noticias/7/2001/02/2.shtml

Buscafonendo Consultasfonendo Foros Panel de Control ... Pub Med Usuario Temas Alergia Anestesia Artritis Calidad de Vida ... Neurología DEMENTIA (I): INTRODUCTION, CLASSIFICATION www.fonendo.com 18/02/2001 INTRODUCTION Dementia is a clinical syndrome characterized by acquired persistent disturbances in multiple areas of neuropsychologic function (including memory impairment) that are due to the direct physiological effects of a general medical condition, to the persisting effects of a substance, or to multiple etiologies. Dementing illnesses become increasingly common in old age but should not be regarded as an expected component of the normal aging process. Regardless of the patient's age, a thorough search for the cause of dementia is warranted. Many of the problems affecting aged individuals should be viewed as syndromes (i.e., collections of signs and symptoms with several potential etiologies). Just as the clinical presentation of heart failure and anemia trigger a differential diagnosis of pathogenetic entities, so should the major geriatric syndromes of dementia, depression, falling, and incontinence. Investigations of established syndromes in other medical subspecialties have led to the understanding of disease mechanisms and effective therapies for the underlying conditions. Compared with delirium, dementia has a less abrupt onset, lasts longer, exhibits less impairment of arousal, and has less fluctuation in the level of consciousness. Dementia is distinguished from mental retardation by its late occurrence and a decline from a higher level of intellectual functioning. Dementia is differentiated from monosymptomatic neuropsychologic syndromes, such as aphasia and amnesia, by the simultaneous occurrence of deficits that involve several cognitive functions. While the syndrome must have been present for several months or more to be labeled as a dementia, the decline in intellectual ability is not necessarily irreversible, and appropriate diagnosis and treatment may produce improvement in cognitive function.

67. Home       Objectives       Schedule       Lectures     � Other progressive diseases (eg, Parkinson’s disease, HallervordenSpatz disease,spinocerebellar degenerations, progressive supranuclear palsy). http://umed.med.utah.edu/neuronet/lectures/2002/cognitive testing in dementia.ht

Home Objectives Schedule Lectures ... Download for PDA Cognitive Testing in Patients with Suspected Dementia T. Schenkenberg, Ph.D. Department of Neurology OBJECTIVES To know the diagnostic criteria for the diagnosis of dementia To list five causes of dementia To understand the importance of age-based norms when evaluating cognition in the elderly To recognize that there are reversible causes of dementia To name three basic tests used in the evaluation of possible dementia DEMENTIA DEFINITION A progressive loss of intellectual abilities of sufficient severity to interfere with social and/or occupational functioning. “Dementia” is a descriptive term, not a specific disease or condition. There are dozens of pathophysiologic causes of dementia. Because dementia is seen in the context of so many conditions, dementia is one of the most common findings encountered by neurologists who see adult patients. A. MAGNITUDE OF THE PROBLEM The population over 65 years of age is increasing rapidlyfrom 23 million in 1978 (11% of the population) to 51 million by 2030 (about 19% of the population). If life expectancy continues to rise, and the mean age of onset of dementia does not, some authors have projected that about 45% of the population would develop dementia at some point during their lives (with life expectancy extending into the late 90’s).

68. UNIT 7 MULTIPLE SCLEROSIS These include vasculitides (SLE, Sjögren’s), AIDS, Lyme disease, some of theinherited spinocerebellar degenerations, adrenoleukodystrophy, or CNS mass http://www.neurology.arizona.edu/unit7.htm

UNIT 7 MULTIPLE SCLEROSIS Unit #7 – Multiple Sclerosis Multiple Sclerosis is the most common demyelinating disease of the central nervous system. It most often affects young adults between the ages of 20-50 with a 2:1 female/male ratio. Learning objectives: 1. Basic Science Discuss why CNS demyelination produces the signs and symptoms commonly seen in MS. Describe the basic immunopathologic mechanism(s) thought to be responsible for CNS demyelination. 2. Clinical Aspects a. List at least six common symptoms and/or clinical presentations of MS. Describe the criteria for making a clinical diagnosis of MS. List the paraclinical tests that are used to help make a diagnosis of MS. List a short differential for other conditions that may mimic MS. 3. Treatment Discuss treatment for an acute exacerbation of MS. Discuss the pharmacologic or other treatment modalities that are used in the management of common symptoms of MS. Name the three agents that are currently (early 1998) FDA approved for prophylactic treatment of MS, the rationale for their use, and assumed mechanism of action. Describe their major clinical effects and side effects.

69. Bibliographic Information About Parkinson's Disease And Movement Disorders Palsy 229 Mark Stacy, MD 17 Multiple System Atrophy 235 James H. Bower, MD 18 FamilialAdultOnset spinocerebellar degenerations 243 James H. Bower, MD 19 http://www2.utsouthwestern.edu/cfdocs/library/facultypubs/bib_cite.cfm?titleID=5

70. ²Œ´ ³‹N ”­•\˜_•¶ ˆãŠw’†‰›ŽGŽ‚æ‚è SUTUDY OF SOMATOSENSORY EVOKED POTENTIALS IN spinocerebellar degenerations.M.sahara, A.Kanno, M.Watanabe, M.Tachiya, N.Okita and S.Takase. http://homepage1.nifty.com/masakisahara/masaro.htm

88”NˆÈŒã‚Ì‚à‚́@‡•s“¯ CN:95156494 TI:Ò‘¬”]•Ï«Ç‚É‚¨‚¯‚é’®«”]Š²”½‰ž‚ÌŒŸ“¢ —Տ°•aŒ^‚¨‚æ‚ÑŽ¸’²Çó‚ÆABR‚Ì”äŠr AU:›–쏲„(L“ì•a‰@),—§‰Ô”ü˜aŽq,²Œ´³‹N JN:ˆãŠwŒŸ¸ CI :26C KW : —U”­“dˆÊ ”]Š²’®Šo f’f l AB:SCD‚ÌŠeŽ¾Š³ŒQ‚ɂ‚¢‚ÄABR‚ƗՏ°Çó‚ÌŠÖ˜A‚ðŒŸ“¢‚µ‚½BABR‚ُ̈í‚Í,‚Ù‚Ú‘S—á‚É‚¨‚¢‚Ä 3”g‚̐öŽž‰„’·‚à‚µ‚­‚͏ÁŽ¸‚ðŽ¦‚µ‚½B‚µ‚©‚µ,—Տ°Çó‚ÆABRˆÙí‚É‘ŠŠÖ‚ÍŒ©o‚¹‚È‚©‚Á‚½ CN:96200284 TI:Ò‘áŠQ’¥Œó‚ª”F‚ß‚ç‚ê‚È‚©‚Á‚½èò‘‘½Œ`äP‰èŽî‚̐‘–Œ”dŽí JN:—Տ°_ŒoŠw(0009-918X) 35Šª 11† Page 1235-1240 (1995.11) CI: KW: _ŒoäPŽî CK: l ¬l ’j ‚ðŽ¦‚µ‚½.ˆÓŽ¯áŠQ‚Æ‘½”­«‚Ì”]_Œo¥Ò‘_ŒoªáŠQ‚ª™X‚ɐis‚µ,‘SŒo‰ß11T‚ÅŽ€–S‚µ ‚ª•`o‚³‚ê,ŽÀŽ¿“à•a•Ï‚͉º•”èò‘‚É‚Ì‚ÝŽ¦´‚³‚ꂽ.”]‚Ì–UŒŸ‚Å‘½Œ`äP‰èŽî‚̐‘–Œ”dŽí‚Æ f’f‚³‚ꂽ‚ª,”]ŽÀŽ¿“à‚É‚ÍŒ´”­‘ƒ‚Æ‘z’肳‚ê‚é•a•Ï‚ª‚È‚­,Ò‘‚ªŒ´”­‚ƍl‚¦‚ç‚ꂽ(‹TŽR ³–M) CN:96090550 TI:ˆâ“`Žqf’f‚ª—L—p‚Å‚ ‚Á‚½ŒÇ”­—á‚ƍl‚¦‚ç‚ꂽŽ•óŠjÔŠj’W‘“‹ Ù²‘̈ޏkÇ(DRPLA)‚Ì JN:—Տ°_ŒoŠw(0009-918X) 35Šª 2† Page 201-203 (1995.02) CI: KW:; ˆâ“`Žqf’f Ž•óŠjÔŠj’W‘“‹ Ù²‘̈ޏkÇ f’f CK: l ’†”N CN :97157527 TI:• •”‘å“®–¬‰ð—£‚É‚æ‚éˆê‰ß«Ò‘‹•ŒŒ‚Ì1—á JN:—Տ°_ŒoŠw(0009-918X) 36Šª 10† Page 1197 (1996.10)

71. COGNITIVE TESTING IN PATIENTS WITH SUSPECTED DEMENTIA Other progressive diseases (eg, Parkinson’s disease, HallervordenSpatzdisease, spinocerebellar degenerations, progressive supranuclear palsy). http://medlib.med.utah.edu/neuronet/cogtest/

COGNITIVE TESTING IN PATIENTS WITH SUSPECTED DEMENTIA T. Schenkenberg, Ph.D. DEFINITION A loss of intellectual abilities of sufficient severity to interfere with social and/or occupational functioning. MAGNITUDE OF THE PROBLEM Population over 65 years of age is increasing rapidly (from 23 million, 11% of the population in 1978, to 51 million, about 19% of the population by 2030). If life expectancy continues to rise, and the mean age of onset of dementia does not, some authors have projected that about 45% of the population would develop dementia at some point during their lives (with life expectancy extending into the late 90’s). Close to 3 million people are in nursing homes in the USA now. About two-thirds of them suffer from dementia. Annual cost of formal and informal care is in the neighborhood of $75,000 per year per patient. Estimates suggest that there might be 4 million people in the USA with Alzheimer’s. Some estimates are that there will be 12 million by 2050. B. DIAGNOSTIC CRITERIA Demonstrable impairment in short-term and long-term memory At least one of the following: impairment of abstract thinking impaired judgement other disturbances of higher cortical functioning (e.g., apraxia, acalculia, agnosia, language dysfunction)

72. Indian Pediatrics - Case Reports Biol Chem 1999; 12 13451354. 6. Brett EM. spinocerebellar degenerations andsome related disorders. In Pediatric Neuro-logy, 2nd edn. Ed Brett EM. http://www.indianpediatrics.net/sept2001/sept-1056-1058.htm

Home Past Issue About IP About IAP ... Subscription Case Reports Indian Pediatrics 2001; 38: 1056-1058 Dopa-Responsive Dystonia Rajiv Mittal, Jatinder S. Goraya Srikanta Basu From the Department of Pediatrics, Government Medical College Hospital, Sector 32 B, Chandigarh 160 047, India. Correspondence to: Dr. Jatinder S. Goraya, Reader, Department of Pediatrics, Government Medical College Hospital, Sector 32 B, Chandigarh 160 047, India. E-mail: goraya@glide.net.in Manuscript received: November 7, 2000; Initial review completed: December 12, 2000; Revision accepted: January 30, 2001. Dopa-responsive dystonia (DRD) also known as ‘hereditary progressive dystonia with diurnal variations’ or ‘Segawa’s syndrome’ was first described by Segawa et al. in 1976(1). The dystonia characteristically worsens throughout the day and there is marked benefit from sleep. Another equally important feature is the complete relief of symptoms from small doses of L-dopa(2). Because of lack of awareness, it is not unusual for this uncommon disorder to be mis-diagnosed as hysteria, hereditary spastic para-paresis or cerebral palsy(2-4). Since an effective therapy for DRD is available, implication of wrong diagnosis can be enor-mous. We report one such case to highlight these aspects. Case Report Discussion Dopa-responsive dystonia represents about 5-10% of primary childhood dystonia(2). Age of onset is usually between 4-8 years but may be as early as infancy. The disorder is more common in females. It is inherited in an autosomal dominant fashion. Occasionally, the condition may occur sporadically(2,3). The causative gene for the disorder has been localized to chromosome 14q and it encodes for enzyme GTP-Cyclohydrolase 1(5).

73. Spinocerebellar Degenerations Information Sites Reviewed spinocerebellar degenerations sites, by people who know SpinocerebellarDegenerations and work with spinocerebellar degenerations. HEALTHorgs.com. http://www.healthorgs.com/ConditionsandDiseases/NeurologicalDisorders/SpinalCord

HEALTHorgs.com Search The Largest Human Reviewed Health Database on Internet (Not sure of spelling? Use first letters and * such as abc* or abcd* or abcde*) Match:.. All Any Format: Long Short Search Words: Search the Internet (Not sure of spelling? Use first letters and * such as abc* or abcd* or abcde*) Match:.. All Any Format: Long Short Search Words: Top Health Conditions and Diseases Neurological Disorders ... Spinal Cord : Spinocerebellar Degenerations Ataxia Friedreich Ataxia Machado-Joseph Olivopontocerebellar Atrophy ... Marinesco-Sjogren Syndrome - Information and a support group for families affected with this syndrome, a rare genetic disorder characterized by ataxia, cataracts, very small stature, and mental retardation. Click Here for a fast ON-LINE APPLICATION FREE HOME LOAN APPRAISAL (on approved loans) The content of the SPYorg.com directory is based on the Open Directory and is enhanced using Spyorg.com technology. Privacy Statement Add Your Site to SPYorg.com ADVERTISEMENT:

74. 1Up Health > Health Links Directory >Conditions And Diseases:Neurological Disord degenerations Friedreich_Ataxia. An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar http://www.1uphealth.com/links/desc-559.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Health Directory An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory

75. 1Up Health > Health Links Directory > Conditions And Diseases: Neurological Diso See Related Categories. Health Conditions and Diseases Genetic Disorders(510) Health Conditions and Diseases Rare Disorders (128). Sites. http://www.1uphealth.com/links/spinocerebellar-degenerations-friedreich-ataxia.h

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Spinocerebellar Degenerations : Friedreich Ataxia Description See Related Categories Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Rare Disorders Sites GeneClinics: Friedreich Ataxia An in depth look at this disorder. Includes a summary, diagnosing, molecular genetic testing, clinical description and management. Living Life with Ataxia An informative site about living a positive life in spite of having a progressive hereditary neurological disease called Friedreich's Ataxia. NINDS Friedreich's Ataxia An information sheet the National Institute of Neurological Disorders and Stroke . NORD - Friedreich's Ataxia Offers the synonyms, a general discussion and further resources. Help build the largest human-edited directory on the web.

76. Spinocerebellar Ataxia feasible that within the next decade, we may be able to determine the gene that isdamaged in most inherited cerebellar degenerations. spinocerebellar ATAXIAS http://www.tchain.com/otoneurology/disorders/central/cerebellar/sca.htm

Cerebellar Degenerations Timothy C. Hain, MD Return to Education Index Last update: Feb 20, 2000 The main goal of this page is to serve as a repository for recent information about inherited cerebellar degenerations. It is not comprehensive, but we hope that it might be of some use to individuals searching for information about these rare conditions on the web. We highly recommend also using the OMIM database , which can be accessed on the web. A large number of the genetic ataxias can be tested for using contemporary methodology. An example of a lab that does this is Athena Most of the information here concerns inherited conditions, as there is considerable new data derived from researchers using a nearly complete map of the human genome (your tax dollar is doing some good !), and improvements in the technology of molecular biology. It seems quite feasible that within the next decade, we may be able to determine the gene that is damaged in most inherited cerebellar degenerations. As these data become known, it may also be possible to target specific therapies, probably over the next 2 decades. In other words, stay tuned, but we aren't there yet. There are numerous non-genetic causes of cerebellar disease.

77. Spinocerebellar Ataxia Type 1 repeat and phenotypic variability of spinocerebellar ataxia type 1. Ann Neurol395006 Medline; Greenfield JG (1954) The Spino-cerebellar degenerations. http://www.geneclinics.org/profiles/sca1/details.html

Spinocerebellar Ataxia Type 1 [SCA 1] Authors: Vicky L Brandt Huda Y Zoghbi, MD Baylor College of Medicine Initial Posting: 1 October 1998 Last Update 29 January 2001 Summary Disease characteristics. SCA1 is characterized by progressive cerebellar ataxia, dysarthria, and eventual bulbar dysfunction. Diagnosis/testing. The diagnosis of SCA1 rests upon the results of DNA-based testing to detect an abnormal CAG trinucleotide repeat expansion of the gene (chromosomal locus 6p23). Affected individuals have alleles with 39-81 CAG trinucleotide repeats. Such testing detects 100% of cases and is available in clinical laboratories. Genetic counseling. SCA1 is inherited in an autosomal dominant manner. It is necessary to confirm the diagnosis in an affected family member using molecular genetic testing of the gene to determine the size of the CAG trinucleotide repeat prior to genetic counseling and testing of asymptomatic at-risk family members. Offspring of an affected individual have a 50% chance of inheriting the gene mutation. Prenatal diagnosis by molecular genetic testing is possible for fetuses at 50% risk, but prenatal testing of typically adult-onset diseases requires careful genetic counseling. Diagnosis The diagnosis of SCA1 rests upon molecular genetic testing to detect a CAG trinucleotide repeat expansion in the gene (chromosomal locus 6p23) in a patient with cerebellar ataxia. Such testing detects 100% of cases and is available in clinical laboratories.

78. Therapy Information Services - Neuroscience cord; spinocerebellar atrophy (Friedreich's ataxia); distinctive pattern of spinalcord tract degenerations (posterior columns, spinocerebellar tracts and http://www.therapyedu.com/neuro/chap10.htm

TIS Chapter 10 Degenerative and Metabolic Disorders DEGENERATIVE DISEASES OF GRAY MATTER 1. Characteristics: a. Clinical: steady progression of signs and symptoms b. Pathology: loss of neurons in stereotyped patterns, generally within functionally related neuronal systems, and atrophy of tracts that originate from the lost neurons. c. Etiology: often genetically determined; several were originally considered to be simply accelerated aging. d. Gene defects, gene products, and genotype risk factors have been identified for many disorders 2. Macroscopic abnormalities a. Atrophy of involved gray matter structures with decreased brain weight. b. Color changes: 1. light brown discoloration of shrunken gray matter 2. loss of normal pigment (e.g., pale substantia nigra in Parkinson's disease) c. Secondary atrophy of cerebral white matter and fiber tracts leading from the atrophic gray matter region d. Enlargement of ventricles due to shrinkage of white matter (e.g., in Alzheimer's disease); called "hydrocephalus ex vacuo". 3. Microscopic Abnormalities

79. THE LIGHTNING HYPERTEXT OF DISEASE. olivopontocerebellar atrophy with retinaldegeneration) Fd spinocerebellar ataxia7 degenerationdegeneration, olivo-ponto-cerebellar degenerations, olivo-ponto http://www.pathinfo.com/cgi-bin/lh.cgi?tx=opc

80. Revista Nº 4 Spinal muscular atrophy. Hereditary degenerations. Idiopathic cerebellar, spinocerebellardegenerations. Bands are not found when complicating cases are excluded http://www.fedem.org/revista/n4/liquido2ing.html

LCSF IN MULTIPLE SCLEROSIS E. J. Thompsom, T London Diagnosis CSF and MRI are complementary tests in the diagnosis of multiple sclerosis, since the sensitivity of both tests is very high (abnormalities found in almost all patients). However, CSF has the advantage of greater specificity since immunoglobulin abnormalities are rarely found in the normal population. The same cannot be said for MRI abnormalities, especially after the 4 th decade of life. The most important technique for analysis of intrathecally-synthesised immunoglobulins is the separation of IgG by isoelectric focusing followed by the detection of the banding pattern using visualisation with immuno-specific staining for IgG molecules. We see in Figure 5 that there are two basic types of pattern in comparing CSF with parallel serum: identical versus discordant. The latter is pathognomonic of local synthesis of IgG within the central nervous system. There are 5 types of CSF/serum banding patterns: Type 1 is normal with a polyclonal response in both CSF and serum;

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