41. CCHS Clinical Digital Library spinocerebellar degenerations Access document. Family Practice Handbook 4thEd.2001 Table of contents. Chapter 9 Neurology Table of contents http://cchs-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 16th Ed.-2005: Table of contents Health Sciences Library subscription INFO Chapter 21. Weakness, Disorders of Movement, and Imbalance: Table of contents Introduction: Access document Imbalance and Disorders of Gait Introduction: Access document Pathogenesis: Access document Further Reading: Access document Chapter 352. Ataxic Disorders: Table of contents Approach to the Patient: Access document The Inherited Ataxias: Access document Further Reading: Access document Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Health Sciences Library subscription INFO Chapter 17 - Coordination and Ataxia: Access document History and Definitions: Access document Clinical History: Access document Anatomy of Coordination: Access document Examination of Coordination and Ataxia: Access document Evaluation Guidelines: Access document Clinical Syndromes: Access document General Management Goals: Access document Reviews and Selected Updates: Access document References: Access document Chapter 18 - Gait and Balance: Access document History and Definitions: Access document Clinical History: Access document Anatomy of Gait and Balance: Access document Examination of Gait and Posture: Access document Evaluation Guidelines: Access document Clinical Syndromes:

42. Ramsay Hunt's Syndrome I (www.whonamedit.com) It has been classified under the spinocerebellar degenerations. Some of the casesare due to mitochondrial abnormalities. Autosomal dominant inheritance http://www.whonamedit.com/synd.cfm/2245.html

Home List categories Eponyms A-Z Biographies by country ... Contact Whonamedit.com does not give medical advice. This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A recommendation: Hypography is an open community about science and all things related Ramsay Hunt's syndrome I Also known as: Hunt’s ataxia Hunt’s syndrome I Ramsay Hunt’s syndrome II Synonyms: Dentate cerebellar ataxia; dentatorubral atrophy, dyssynergia cerebellaris myoclonica, dyssynergia cerebellaris progressiva, dyssynergia cerebellaris progressiva sive myoclonica, primary dentatum atrophy. Associated persons: James Ramsay Hunt Description: A rare form of progressive cerebellar dyssynergia mainly characterised by intention tremor and often associated with convulsions and myoclonic epileptic jerks. Tremor usually begins locally in one extremity and spreads gradually, eventually involving the entire voluntary motor system. Legs are disturbed less often than arms Other features include unsteady gait, errors in estimating the range, direction, and force of voluntary movements, muscular hypotonia, asthenia, and adiadochokinesia are associated. The cause is uncertain, it may be due to a degeneration of the olivodentatorubral system. Onset usually in early adulthood, the average is 30 years. Mental deterioration occurs but is rare. It has been classified under the spinocerebellar degenerations. Some of the cases are due to mitochondrial abnormalities. Autosomal dominant inheritance with reduced penetrance suggested.

43. Summary To Clarify The Ocular Movement Abnormalities In Various abnormalities in various forms of spinocerebellar degeneration (SCD), by the Research Committee on spinocerebellar degenerations of The Japanese http://www.m.chiba-u.ac.jp/med-journal/71/71-3/713ef.html

44. 146500 HYPOTENSION, ORTHOSTATIC all forms of spinocerebellar degeneration to be 4.53 per 100000; of these, Y.; Satoyoshi, E. spinocerebellar degenerations in Japan a nationwide http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:146500] -e

45. 117210 CEREBELLAR ATAXIA, AUTOSOMAL DOMINANT PURE of all forms of spinocerebellar degeneration to be 4.53 per 100000. Y.; Satoyoshi, E. spinocerebellar degenerations in Japan a nationwide http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:117210] -e

46. Spinocerebellar Ataxia Type 5 In A Family Descended From The Grandparents Of Pre PubMed ISI ChemPort ; Zoghbi, HY The spinocerebellar degenerations. Curr.Neurol. 11, 121144 (1991). Schut, JW Hereditary ataxia Clinical study http://www.nature.com/ng/journal/v8/n3/abs/ng1194-280.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng1194-280 Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11 Laura P.W. Ranum , Lawrence J. Schut , Julie K. Lundgren , Harry T. Orr Department of Neurology, University of Minnesota, 420 Delaware Street, S.E., Minneapolis, Minnesota 55455, USA Department of Laboratory Medicine and Pathology , University of Minnesota, 420 Delaware Street, S.E., Minneapolis, Minnesota 55455, USA Department of Biochemistry University of Minnesota, 420 Delaware Street, S.E., Minneapolis, Minnesota 55455, USA The Institute of Human Genetics, University of Minnesota, 420 Delaware Street, S.E., Minneapolis, Minnesota 55455, USA Correspondence should be addressed to L.P.W.R.

47. Identification And Characterization Of The Gene Causing Type 1 Spinocerebellar A Zoghbi, HY The spinocerebellar degenerations in Current Neurology (ed. Appel,SH)121144 (Mosby-Year Book, St-Louis, 1991). Schut, JW Hereditary ataxia http://www.nature.com/ng/journal/v7/n4/abs/ng0894-513.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Article Nature Genetics doi:10.1038/ng0894-513 Identification and characterization of the gene causing type 1 spinocerebellar ataxia Sandro Banfi , Antonio Servadio , Ming-yi Chung , Thomas J. Kwiatkowski Jr. , Alanna E. McCall , Lisa A. Duvick , Ying Shen , Elizabeth J. Roth , Harry T. Orr Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA Departments of Laboratory Medicine and Pathology, and Biochemistry and Institute of Human Genetics, University of Minnesota, Minneapolis, Minnesota 55455, USA Departments of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat. In this study, we describe the identification and characterization of the gene harbouring this repeat. The encoded protein, may be complex.

48. Baylor Neurology Case Of The Month Most of the spinocerebellar degenerations have relatively late onsets (beyondthe age of puberty), and most demonstrate some degree of cerebellar, http://www.bcm.edu/neurology/challeng/pat25/summary.html

Patient #25 Summary and Discussion Diagnosis: Friedreich's Ataxia Patient #25 presented with progressive gait and limb ataxia, mild distal symmetrical sensory loss, dimished deep tendon reflexes, weakness of the gluteal muscles, and bilateral extensor plantar responses. These findings indicate cerebellar, peripheral nerve (or dorsal root ganglion), and corticospinal involvement and imply a multisystem degenerative disease. There was no evidence of autonomic dysfunction, and eye movements were left unaffected. Extrapyramidal involvement was not present arguing against one of the Multi-System Atrophies (MSAs), such as olivopontocerebellar atrophy (OPCA). The most salient feature in this case is the patient's marked progressive ataxia. Ataxia may be due either to cerebellar or proprioceptive dysfunction, though it is rarely difficult to distinguish the two. However, when both are present, diagnostic difficulties arise. The findings in this case - gait and limb ataxia, titubation, loss of check response, and dysdiadochokinesia - point to an abnormality in the cerebellar system. This patient also had evidence of a peripheral neuropathy with involvement of the posterior columns evidenced by decreased position and vibratory sense. The degree of proprioceptive abnormality was not sufficient to explain the marked gait disturbance, however. While this patient exhibited dysfunction in both the cerebellar and proprioceptive systems, the cerebellar involvement was most impressive. The primary defect, therefore lies somewhere in the connections to, from, or within the cerebellum.

49. :: Neurogenetics :: Spinocerebellar Ataxia * Friedreichs Ataxia * Cerebellar degeneration (OPCA) diseases other than spinocerebellar degenerations * Huntington s Chorea http://www.neurology.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.

50. Genetic Testing Zoghbi, HY et al., The spinocerebellar degenerations. In Current Diagnosis inNeurology, ed. E. Feldmann, 87110. 1993. St. Louis Mosby. http://www.athenadiagnostics.com/site/product_search/test_reference_template.asp

51. Rev Cubana Invest Bioméd  Vol.22 no.3; Resumen: S0864-03002003000300009 disorder of the motor coordination, secondary to a primary spinocerebellardegeneration. NERVOUS SYSTEM; ATAXIA; spinocerebellar degenerations. http://scielo.sld.cu/scielo.php?pid=S0864-03002003000300009&script=sci_abstract&

52. E-b-5 which include hereditary spinocerebellar degenerations. of individualspinocerebellar degenerations substantially vary among ethnic populations. http://www.nig.ac.jp/labs/AR98e/E/E-b-5.html

(5) Molecular mechanisms of hereditary neurodegenerative diseases Shoji TSUJI (Niigata University)

53. DeCS - Changed Terms SPINOCEREBELLAR DEGENERATION, spinocerebellar degenerations. STIFFMAN SYNDROME,STIFF-PERSON SYNDROME. SYMPTOMS AND GENERAL PATHOLOGY http://decs.bvs.br/I/rep_i2000.htm

DeCS 2000 - Changed terms Replaced Replaced-by ACOUSTIC NERVE VESTIBULOCOCHLEAR NERVE ACOUSTIC NERVE DISEASES VESTIBULOCOCHLEAR NERVE DISEASES ADIE'S SYNDROME ADIE SYNDROME AMYGDALOID BODY AMYGDALA ANDROGEN-BINDING PROTEINS ANDROGEN-BINDING PROTEIN ANOSMIA OLFACTION DISORDERS APRAXIA APRAXIAS ARNOLD-CHIARI DEFORMITY ARNOLD-CHIARI MALFORMATION ASPARTIC PROTEINASES ASPARTIC ENDOPEPTIDASES CALLUS BONY CALLUS CEREBELLAR DYSSYNERGIA MYOCLONIC CEREBELLAR DYSSYNERGIA CEREBRAL ANEURYSM INTRACRANIAL ANEURYSM CEREBRAL ANOXIA HYPOXIA, BRAIN CEREBRAL ARTERIOSCLEROSIS INTRACRANIAL ARTERIOSCLEROSIS CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL ARTERIOVENOUS MALFORMATIONS CEREBRAL ARTERY DISEASES CEREBRAL ARTERIAL DISEASES CEREBRAL EMBOLISM AND THROMBOSIS INTRACRANIAL EMBOLISM AND THROMBOSIS CEREBRAL ISCHEMIA BRAIN ISCHEMIA CEREBRAL ISCHEMIA, TRANSIENT ISCHEMIC ATTACK, TRANSIENT CEREBRAL SCLEROSIS, DIFFUSE DIFFUSE CEREBRAL SCLEROSIS OF SCHILDER CEREBROSPINAL OTORRHEA CEREBROSPINAL FLUID OTORRHEA CEREBROSPINAL RHINORRHEA CEREBROSPINAL FLUID RHINORRHEA CHARCOT-MARIE DISEASE CHARCOT-MARIE-TOOTH DISEASE CHORDATA CHORDATA, NONVERTEBRATE

54. Entrez PubMed Sequence Homology, Amino Acid; Species Specificity; SpinocerebellarDegenerations/genetics*; spinocerebellar degenerations/metabolism*. Substances http://www.facultyof1000.com/pubmed/14993275

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: Mol Cell Biol.

55. Central Nervous System Diseases spinocerebellar degenerations A 73year-old male . - Baylor Coll Med (US).Corticobasal Ganglionic Degeneration Discussion - BrainTalk Communities http://www.mic.ki.se/Diseases/C10.228.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Central Nervous System Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Alzheimer Disease Arachnoiditis Brain Abscess Brain Abscess ... Uveomeningoencephalitic Syndrome Central Nervous System Diseases Nerve Cells [Lodish et al.] - Molecular Cell Biol., Chap 21, via NLM (US) Pathol. Images of the Central Nervous System - Univ of Utah (US) The Human Brain [JD MacArthur] How brain cells work [Cardoso et al.] EEG Course and Glossary [S Louis] About Normal EEG Variants [S Louis] - eMedicine The Global Brainstem '97 , the Cerebellum '97 , the Thalamus '97 , the Spinal Cord '97 - Univ. of Wisconsin (US) Mental Disorders Links Brain Diseases Brain Functions and Map - Centre for Neuro Skills The Whole Brain Atlas - Atlas Project/Harvard Medical School et al. (US) Dissections of the Real Brain [Williams et al] - Univ of Iowa (US) Anatomy of the Brain - AANS Hallervorden-Spatz Syndrome HSSA: Hallervorden-Spatz Syndrome Association - (US) Genetic aspects of Hallervorden-Spatz Syndrome - OMIM/NLM (US) A nineteen year old boy ... (Hallervorden-Spatz Syndrome)

56. Fried The condition is one of the hereditary spinocerebellar degenerations. It isusually inherited in an autosomal recessive fashion. http://www.mrcophth.com/pd/frieda.htm

Medical Ophthalmology: Case nine Figure 1 Figure 2 This 18 year-old gird had been wheel-chair bound since 10 years of age. She also had problem with her balance. Recently, she developed problem with her vision. a. What do the pictures show? Figure 1 shows pes cavus and figure 2 shows Harrington's rod inserted in the thoracic spine in an attempt to correct a scoliosis. b. What is the most likely diagnosis? Friedrich's ataxia. The condition is one of the hereditary spinocerebellar degenerations. It is usually inherited in an autosomal recessive fashion. The gene abnormality is located on the long arm of chromosome 9. It has the following features: cerebellar dysfunction with ataxia, nystagmus and dysarthria absent knee and ankle jerks but the plantar responses are extensor loss of joint position and vibratory sensation scoliosis cardiomyopathy diabetes mellitus poor vision due to optic atrophy The condition is progressive and most sufferers are wheel-chair bound by 15 years of age. Death due to pulmonary infection (caused by severe scoliosis) or cardiomyopathy occurs in the fourth or fifth decade of life. c. What ocular signs may be present?

57. Medicine On Earth: Amedeo Who's Who In Medicine Prevalence and pattern of spinocerebellar degenerations in northeastern Libya . Visual evoked potentials in spinocerebellar degenerations. http://www.medicineonearth.com/display.php?id=2785&language=1

58. Child Neurology Knowledge Base spinocerebellar degenerations and related conditions (0). Spinocerebellardegenerations and some related conditions. The Neurological Examination (0) http://www.child-neuro.org.uk/kbase/home/?__f=category

59. Myelitis spinocerebellar degenerations Friedreich s ataxia and other hereditary forms ofsystemic spinal degeneration. Spinal muscular atrophies http://www.amershamhealth.com/medcyclopaedia/medical/Volume VI 1/MYELITIS.asp

financial services our commitment our company Search Medcyclopaedia for: Search marked text (mark text before you click) Browse entry words starting with: A B C D ... amershamhealth.com Myelitis, a term that is sometimes improperly used as a synonym for myelopathy; the two terms, however, have quite different meanings. Both indicate spinal cord involvement by some pathological event: myelopathy is a more inclusive term that does not imply an aetiological factor while myelitis should be restricted to inflammatory diseases of the spinal cord. Myelopathy includes myelitis; myelitis produces a myelopathy. Any process that impairs the function of the spinal cord produces a myelopathy; in the common use, however, the term is usually employed with an adjective such as "compressive", "degenerative" or "congenital". Despite the fact that conditions such as spinal cord tumours or hydrosyringomyelia produce symptoms of myelopathy they are usually considered as specific, separate entities. On the other hand, "myelitis" is frequently a sort of wastebasket in which all myelopathies of unknown or undetectable aetiology are included. With these caveats in mind an attempt at classification can be made. MYELITIS Viral infections Usually of acute onset due to viruses that affect the grey matter (poliomyelitis). Herpes, coxackie and polio viruses are the most common agents.

60. <> spinocerebellar degenerations StiffPerson Syndrome Syringomyelia TabesDorsalis or were you looking for the Archives? http://www.the-logos.com/backissues.php

Advanced search Back Issues Lower back pain Herniated disk Slipped disk Spina Bifida Spinal stenosis Segmental spinal stenosis The Cauda Equina Syndrome Spondylolysis Spondylolisthesis Scoliosis Kyphosis (Scheuermann's disease) Amyotrophic Lateral Sclerosis Epidural Abscess Myelitis Spinal Muscular Atrophy Spinocerebellar Degenerations Stiff-Person Syndrome Syringomyelia Tabes Dorsalis ...or were you looking for the Archives Powered by pMachine Macintosh Cedant

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