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
Extractions: Clinical Resources by Topic: Neurology Ataxia Clinical Resources Pediatrics Geriatrics Pathology Genetics ... Miscellaneous Resources See also: Further Reading: Access document Chapter 352. Ataxic Disorders: Table of contents Goetz: Textbook of Clinical Neurology 2nd Ed.-2003 (MD Consult): Table of contents Health Sciences Library subscription INFO 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:
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
Extractions: 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 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.
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
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
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
Extractions: @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 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.
Extractions: @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 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.
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
Extractions: 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.
:: Neurogenetics :: Spinocerebellar Ataxia * Friedreichs Ataxia * Cerebellar degeneration (OPCA) diseases other than spinocerebellar degenerations * Huntington s Chorea http://www.neurology.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.
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
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&
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
DeCS - Changed Terms SPINOCEREBELLAR DEGENERATION, spinocerebellar degenerations. STIFFMAN SYNDROME,STIFF-PERSON SYNDROME. SYMPTOMS AND GENERAL PATHOLOGY http://decs.bvs.br/I/rep_i2000.htm
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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
Extractions: 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
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
Extractions: 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: 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.
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
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
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
Extractions: 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.
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