81. UConn Co-op - Product Detail For Parkinson's Disease And Movement Disorders: Dia Familial AdultOnset spinocerebellar degenerations James H. Bower 19. CorticobasalDegeneration Bradley F. Boeve 20. Parkinsonism in Primary Degenerative http://webmedbooks.com/uconncoop/content/productdetail.aspx/upc=661d5931-013a-45

You Are Here: Home Medical Books Medicine Neurology and Neuroscience Parkinson's Disease and M... Sign In My Account Search All Products Medical Books Medical Supplies General Books Master Therapist Lists Faculty Bookshelf for Parkinson's Disease and Movement Disorders: Diagnosis and Treatment Guidelines for the Practicing Physician By Adler, Charles H. Click for larger image Your Price: Usually ships within 24 hours More product information Product Information Binding: Cloth Specs: 474 pages 0.01 Lbs ISBN: Edition: Publisher: Humana Press Publish Date 04/00 Series: Current Clinical Practice Table Of Contents: Preface Contributors A. Basic Diagnostic Principles 1. Approach to the Patient With a Movement Disorder: Basic Principles of Neurologic Diagnosis J. Eric Ahlskog 2. Motor Speech Disorders: Clues to Neurologic Diagnosis Joseph R. Duffy B. Parkinson's Disease 3. What Is Parkinson's Disease? Neuropathology, Neurochemistry, and Pathophysiology Howard Hurtig 4. Clinical Features of Parkinson's Disease Richard B. Dewey, Jr.

82. Indian Pediatrics - Case Reports spinocerebellar degenerations and some related disorders. In Pediatric Neurology,2nd edn. Ed Brett EM. Edinburgh, Churchill Livingstone, 1991; 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).

83. Spinocerebellar Ataxia It is characterized pathologically by spinopontine atrophy, degeneration of thedentate spinocerebellar ataxia type 6 frequency of th emutaiton and 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.

84. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Genetic_Disorders/ Related topics include Autosomal Dominant spinocerebellar Degeneration, AzoreanNeurologic Disease, Machado Disease, MachadoJoseph Disease, http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Genetic_Dis

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Genetic Disorders : Machado-Joseph Subtopics See Also: Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Health: Conditions and Diseases: Neurological Disorders: Spinal Cord: Spinocerebellar Degenerations Search Google: Machado-Joseph News Books Links ... Obesity Strongly Linked To Pulmonary Embolism And Deep Venous Thrombosis (September 9, 2005) The American Journal of Medicine , researchers analyzed over 20 years of patient records compiled by the National Hospital Discharge Survey (NHDS) to investigate the potential risk of obesity in venous thromboembolism. The investigators concluded that obesity is an independent risk factor for venous thromboembolic disease in men as well as women, particularly those under age 40. full story Scientists Must Offer Solutions For Conserving Tropical Forests In A Rapidly Changing World (September 4, 2005) full story Researchers Describe New Cost-effective Method To Assess Sleep (August 30, 2005)

85. References For Spinocerebellar Ataxia-14 With The MeSH Term References for spinocerebellar ataxia14 with the MeSH term spinocerebellarDegenerations, G2D Home. PMID and date. Follow the link to see the http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Spinocerebellar_Dege

86. Entrez PubMed Autosomal dominant spinocerebellar atrophy with retinal degeneration. Ptacek LJ.Eccles Institute of Human Genetics, University of Utah, Salt Lake City http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=7

87. Entrez PubMed spinocerebellar ataxia 6 (SCA6) is an autosomal dominant spinocerebellar degenerationcaused by the expansion of the polymorphic CAG repeat in the human http://genomebiology.com/pubmed/9259274

My NCBI [Sign In] [Register] All Databases ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes Conserved Domains 3D Domains Gene Genome Project GENSAT GEO Profiles GEO DataSets HomoloGene Journals MeSH NCBI Web Site NLM Catalog OMIA OMIM PMC PopSet Probe PubChem BioAssay PubChem Compound PubChem Substance SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard Details About Entrez Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Mobile NLM Catalog NLM Gateway ... PubMed Central Display Summary Brief Abstract Citation MEDLINE XML UI List LinkOut ASN.1 Related Articles Cited Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Gene (GeneRIF) Links Genome Links Project Links GENSAT Links GEO Profile Links HomoloGene Links Nucleotide Links OMIA Links OMIM Links BioAssay Links Compound Links Compound via MeSH Substance Links Substance via MeSH PMC Links Cited in PMC PopSet Links Probe Links Protein Links SNP Links Structure Links UniGene Links UniSTS Links Show Sort by Author Journal Pub Date Send to Text File Clipboard E-mail Order All: 1 Review: Hum Mol Genet.

88. Blackwell Synergy - Cookie Absent spinocerebellar ataxia (SCA) or spinocerebellar degeneration (SCD) is a progressive Autosomal dominant spinocerebellar degeneration with pigmentary http://www.blackwell-synergy.com/doi/abs/10.1111/j.1440-1789.2005.00596.x

Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.

89. Spinocerebellar Ataxia - Wikipedia, The Free Encyclopedia spinocerebellar degeneration is a rare inherited neurological disorder of the There are three forms of spinocerebellar degeneration Types 1, 2, 3. http://en.wikipedia.org/wiki/Spinocerebellar_ataxia

You did it! Over US$240,000 was donated in the 21 day fund drive. Thank you for your generosity! You are still welcome to make a donation or purchase Wikimedia merchandise Spinocerebellar ataxia From Wikipedia, the free encyclopedia. Spinocerebellar ataxia Cerebellum (in blue) of the human brain Spinocerebellar ataxia SCA ) is a disease with multiple types, each of which could be considered a disease in its own right. As with other forms of ataxia , SCA results in unsteady and clumsy motion of the body due to a failure of the fine coordination of muscle movements, along with other symptoms It can be easily misdiagnosed as another neurological condition, such as multiple sclerosis (MS). There is no known cure for this degenerative condition, which lasts for the remainder of the sufferer's life. Treatments are generally limited to softening symptoms, not the disease itself. The condition is irreversible. It is normal for a person with it to become confined to a wheelchair , and eventually become incapable of caring for themselves. The symptoms of the condition vary with the specific type (there are several), and with the individual patient. Generally, a sufferer retains full mental capacity while they progressively lose physical control over their body until their death. One means of identifying the disease is with an MRI to view the brain. Once the disease has progressed sufficiently, the

90. E-Doc INTERACTIVE - The diagnosis of spinocerebellar degeneration (SCD) usually requires extensiveclinical evaluation to exclude other diseases that cause gradual http://www.e-doc.co.za/modules.php?name=News&file=article&sid=126

91. Emretina8 spinocerebellar degeneration. Limb incoordination. Nerve deafness spinocerebellardegeneration. Refsum dz (phytanic acid storage dz). Cerebellar ataxia http://mail.ml.usoms.poznan.pl/eyemanual/emretina8.htm

Department of Ophthalmology and Visual Sciences The Online Eye Manual / Retina VIII. Selected Retinal Degenerations Associated w/ Systemic Disease Cancer-Associated Retinopathy Hyperviscosity syndrome Friedreich’s ataxia AR Spinocerebellar degeneration Limb incoordination Nerve deafness Retinal degeneration Optic atrophy Myotonic dystrophy (Steinert’s dz) AD Muscle wasting Christmas tree cataract Retinal degeneration, +/- pigment deposits Subnormal ERG Normal EOG Southern blot: repeated trinucleotide on Chrom 19 Duchenne Muscular Dystrophy ERG: negative waveform (similar to CSNB) normal a-wave, reduced b-wave Do not have night blindness Mutation in gene for dystrophin Retinal-renal dysplasia AR Juvenile-onset renal failure Pigmentary retinopathy Alport syndrome AD Nephropathy Deafness Myopia Cataract RD Alstrom syndrome AR Pigmentary retinopathy Diabetes Obesity Deafness Normal mental capacity Gardner syndrome (familial adenomatous polyposis) Lesions sim. to CHRPE but smaller, bilateral, more variegated Incontinentia pigmenti XLR, yet primarily affects females since males rarely survive

92. The Neurologist - UserLogin Efficacy of TRHT for spinocerebellar degeneration-the relation between clinical A quantitative evaluation of spinocerebellar degeneration by an http://www.theneurologist.org/pt/re/neurologist/fulltext.00127893-200409000-0000

LWWOnline LOGIN eALERTS REGISTER ... Archive You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt02 Release 4.0

93. Karger Publishers 17 Harada H, Takahashi K Epidemiology of spinocerebellar degeneration in Tottoriprefecture. Clin Neurol (Tokyo) 1989;29164166. External Resources http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=

94. Progressive Cerebellar Syndromes Marinesco Sjogren syndrome, Huntingtons disease, CreutzfeldJakob and GSSdisease, inflammatory spinocerebellar degeneration, GAPN syndrome(antiMAG), http://www.bme.jhu.edu/labs/chb/disorders/cerebell.html

Progressive cerebellar syndromes The differential diagnosis of a progressive cerebellar syndrome includes vitamin E deficiency, lipoprotein disorders , neurocanthocytosis, Wilson disease MLD hexosaminidase deficiency , aminoacidurias including Hartnup disease , cerebrotendinous xanthomatosis, mitochondrial cytopathies, giant axonal neuropathy, hemochromatosis, adrenoleukodystrophy, Krabbe disease , Whipples disease, demyelinating disease, Behcets, progressive multifocal leukoencephalopathy, vasculitides, biotinidase deficiency, sphingomyelinase deficiency, neuroaxonal dystrophy, Hallevorden-Spatz, Marinesco Sjogren syndrome, Huntingtons disease, Creutzfeld-Jakob and GSS disease, inflammatory spinocerebellar degeneration, GAPN syndrome(antiMAG), thyroid disease, Chediak-Higashi , ataxia telangiectasia, superficial siderosis, heavy metal intoxications, drug (eg. Lithium and Dilantin) intoxication, nutritional, paraneoplastic and familial cerebellar degenerations (including Freidrichs, Joseph disease and other OPCAs including multiple system atrophy) and structural lesions including posterior fossa cysts, tumors, and vascular malformation; craniocervical junction anomalies, occasionally lesions in the frontal lobes or in the cervical spinal cord, and hydrocephalus.

95. Health/Conditions And Diseases/Neurological Disorders/Spinal Cord/Spinocerebella Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Neurological_

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Categories Ataxia Friedreich's Ataxia Machado-Joseph Olivopontocerebellar Atrophy Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... 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. url: www.marinesco-sjogren.org mozilla.org url: www.mozilla.org/ Wikipedia url: en.wikipedia.org/ edit url: editors.dmoz.org/editors/editcat.cgi?cat=Health/Co... More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Are you a physician or a nurse?

96. Arch Neurol -- Abstract: Neuro-ophthalmologic Findings In Vestibulocerebellar At constellation of symptoms is emphasized. A discussion of the spinocerebellardegenerations, differential diagnosis, and literature review are included. http://archneur.ama-assn.org/cgi/content/abstract/43/10/1050

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 43 No. 10, October 1986 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Farris BK Ayyar DR Contact me when this article is cited Neuro-ophthalmologic findings in vestibulocerebellar ataxia B. K. Farris, J. L. Smith and D. R. Ayyar A young adult who presents with periodic vertigo, diplopia, and tinnitus, later followed by progressive ataxia, may not have multiple sclerosis as might initially be suspected, but rather may represent a type of familial spinocerebellar degeneration previously described by Farmer and Mustian as "vestibulocerebellar ataxia." We recently encountered a patient who presented with these symptoms, and who was found to have downbeat

97. Arch Neurol -- Abstract: Cranial Computerized Tomography And Marie's Ataxia: A C Cranial computerized tomography (CT) is an aid in the diagnosis of the spinocerebellardegenerations and may be used to define and categorize individual http://archneur.ama-assn.org/cgi/content/abstract/35/1/55

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 35 No. 1, January 1978 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Aita JF Contact me when this article is cited Cranial computerized tomography and Marie's ataxia: a case report J. F. Aita Cranial computerized tomography (CT) is an aid in the diagnosis of the spinocerebellar degenerations and may be used to define and categorize individual cases based on the extent and localization of atrophy. We discuss a case of Marie's ataxia and the cranial computerized tomographic appearance. HOME CURRENT ISSUE PAST ISSUES COLLECTIONS ... HELP

98. Tremor - Patient UK Associated with brain stem or cerebellar disease including MS, spinocerebellardegenerations, vascular disease, tumours. Also psychogenic tremors. http://www.patient.co.uk/showdoc/40000127/

PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. Tremor Three types of tremor: Static - occurs in a relaxed limb when fully supported at rest. Causes include Parkinson's disease , Parkinsonism, other extra pyramidal diseases, multiple sclerosis Postural - occurs when a part of the body is held in a fixed position (can also remain during movement). Types include physiological tremor, exaggerated physiological tremor e.g. in thyrotoxicosis , anxiety states, alcohol abuse , drugs (e.g. sympathomimetics, antidepressants, valproate, lithium), heavy metal poisoning ('hatter's shakes' from mercury). Neurological disease e.g. severe cerebellar lesions, Wilson's disease , neurosyphilis, peripheral neuropathies, Benign essential ( familial) tremor, task-specific tremors e.g. primary writing tremor. Kinetic or action tremor - occurs during voluntary active movement of upper body part. If action tremor worsens as goal-directed movement approaches its intended target, this is intention tremor. Associated with brain stem or cerebellar disease including MS, spinocerebellar degenerations, vascular disease, tumours. Also psychogenic tremors.

99. MJD Fact Sheet This Article Submitted By Dr. Lewis Sudarsky On 1/9 PATHOLOGY MachadoJoseph disease is classified as one of the spinocerebellardegenerations. Careful autopsy studies involving the central nervous system http://pages.infinit.net/macmike/internaf/archives/MJD.txt

100. Molecular Genetics And Inherited Ataxias: Redefining Phenotypes And Pathogenesis disease is likely to be relevant to our global understanding of spinocerebellardegenerations and other degenerative disorders of the nervous system. http://nro.sagepub.com/cgi/content/abstract/6/6/465

JOURNAL HOME HELP CONTACT US SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: The Neuroscientist, Vol. 6, No. 6, 465-474 (2000) This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Alert me to new issues of the journal Download to citation manager Cited by other online articles ... Reprints and Permissions PubMed Articles by Sobrido, M. J. Articles by Geschwind, D. H. Molecular Genetics and Inherited Ataxias: Redefining Phenotypes and Pathogenesis Maria J. Sobrido University of California, School of Medicine, Los Angeles, California Daniel H. Geschwind University of California, School of Medicine, Los Angeles, California Genetic research on inherited ataxias has transformed our understanding of these conditions. The availability of genetic testing has shown that a classification based solely on clinical and pathologic findings is not adequate, and molecular genetic analysis is now mandatory for diagnostic accuracy and prognostic purposes.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 5     81-100 of 100    Back | 1  | 2  | 3  | 4  | 5