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Spinocerebellar Degenerations:     more detail

Spinocerebellar degenerations: Proceedings of the International Symposium on Spinocerebellar Degenerations held October 12-14, 1978, Tokyo Trh and Spinocerebellar Degeneration Spinocerebellar Degenerations: The Ataxias and Spastic Paraplegias: Blue Books of Neurology Series, Volume 31 by Alexis Brice MD, Stefan-M. Pulst MD, 2007-05-23 Hereditary Neuropathies and Spinocerebellar Atrophies The Spino-Cerebellar Degenerations by J G Greenfield, 1954-01-01 The Spino-Cerebellar Degenerations by J G Greenfield, 1954-01-01 Advances in Research on Neurodegeneration.: Volume 7 (Journal of Neural Transmission Supplementum) Handbook of Ataxia Disorders (Neurological Disease and Therapy)

lists with details

41. Spinocerebellar Ataxia Type 3
    462148 Medline; Sridharan R, Radhakrishnan K, Ashok PP, Mousa ME (1985) Prevalenceand pattern of spinocerebellar degenerations in northeastern Libya.  
    http://www.geneclinics.org/profiles/sca3/details.html
    
    Extractions: 24 May 2001 Disease characteristics. SCA3 is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a Parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses. Diagnosis/testing. The diagnosis of SCA3 rests upon the use of DNA-based testing to detect an abnormal CAG trinucleotide repeat expansion of the MJD gene (chromosomal locus 14q24.3-q31). Affected individuals have alleles with 56 to 86 CAG trinucleotide repeats. Such testing detects 100% of cases and is available in clinical laboratories. Genetic counseling. SCA3 is inherited in an autosomal dominant manner. It is necessary to confirm the diagnosis in an affected family member using DNA-based testing of the MJD gene to determine the size of the CAG trinucleotide repeat as part of genetic counseling and testing of asymptomatic at-risk family members. Offspring of affected individuals have a 50% chance of inheriting the gene mutation. Prenatal testing by molecular genetic DNA testing is possible for fetuses at 50% risk; however, requests for prenatal testing of typically adult-onset diseases are unusual and require careful genetic counseling.

42. Medicalseek - Search Engine For The Healthcare Industry
    Disorders Spinal Cord. Category Compression Category Epidural Abscess,Category spinocerebellar degenerations Category Tabes Dorsalis.  
    http://www.medicalseek.net/Conditions_and_Diseases_Neurological_Disorders_Spinal

43. There Is One Chance In Four Of It Being A Normal Child, Two
    There are a number of less common spinocerebellar degenerations to be considered,such a Refsum’s disease, CharcotMarie-Tooth disease, and the Roussy-Levy  
    http://www.fasi.ie/condition3.html
    
    Extractions: There is one chance in four of it being a normal child, two chances in four of it being a carrier, and one chance in four of it having FA. This is much the commonest way in which FA is inherited. Similarly it can be shown that, if an FA sufferer marries a normal person, all of the children will be carriers (ff+FF=Ff, Ff, Ff, Ff). If an FA sufferer marries an FA carrier, there is a 50/50 chance of the children being either carriers or sufferers of FA. Finally in the event of two FA sufferers marrying, all of the children will themselves suffer from FA (ff+ff=ff ,ff ,ff ,ff). Note that the FA carrier is apparently quite normal. If such a carrier is not a member of an FA family he/she will be unaware of the condition and therefore the carrier state may be passed on unknowingly for generation after generation (as in marriage 1). It is very important to note also that, if two FA carriers marry, the 1 in 4 chance of them having an FA child is true for each child born. In other words, should they have, say two FA children to start with, the chance of a third child having FA is unaffected - that is, the chance is still 1 in 4. It should be remembered that FA is only one of many recessive genes, that may in a double dose, i.e. inherited from both parents, cause some form of illness and that everyone carries some deleterious genes. Pathology 1. Cells of dorsal root and Clarke’s column Degeneration with gliosis. Hence sensory (dorsal root) and proprioceptive (Clarke’s column) loss. The Cells of Clarke’s column are involved also in adjusting muscle tone and synergising muscle movement. 2. Dorsal columns, spinocerebellar tracts, pyramidal tracts, and peripheral nerves Demyelination with gliosis, and reinforcement of effects indicated above. These changes in pyramidal (lateral corticospinal) tracts partly explain muscle weakness, disuse being the other element involved. 3. In some patients only - cerebellar cortex and deep cerebellar nuclei Atrophy, leading to further reinforcement of the neurological substrate to ataxia, etc. 4. Myocardium in some patients Diffuse loss with scarring. Diagnosis and Differential Diagnosis The characteristic features are: age of onset; insidious start; progressive ataxia with dysarthria; characteristic neurological findings; pes cavus and kyphoscoliosis. Multiple scerosis and subacute combined degeneration differ both in presentation and age of onset. A cerebellar abscess may produce certain similar signs, but pain will usually be present, and progress is much more rapid, quite apart from the results of specialised neurological investigations. There are a number of less common spinocerebellar degenerations to be considered, such a Refsum’s disease, Charcot-Marie-Tooth disease, and the Roussy-Levy syndrome; but these certainly fall into the province of the specialist neurologist.

44. Myoclonus
    spinocerebellar degenerations, basal ganglia degenerations, mitochondrial disorders),and other dementing illnesses (JakobCruetzfeldt disease, Alzheimers  
    http://www.cmdg.org/Movement_/myoclonus/myoclonus.htm
    
    Extractions: The Canadian Movement Disorder Group MYOCLONUS Definition: A sudden "Shock" like muscular movement Myoclonus can be Classified By: 1) The Electrophysiologic Phenomenon (certain electrical characteristics) Negative Myoclonus (asterixis) a sudden  relaxation of a group of muscles. 2) Classification by the Anatomical Origin Electical Discharge From the surface of the brain ( Cortical Myoclonus ).............Epileptic From deeper within the brain ( Subcortical Myoclonus From an electrical impulse within the spinal cord ( Spinal or Segmental Myoclonus From an electrical impulse within a peripheral nerve ( Peripheral Myoclonus eg. hemifacial spasm) 3) Classification byBody Parts Involved Focal If only one body part is affected myoclonus is called "focal" . (eg. myoclonic jerks of 1/2 the face ( "hemifacial spasm" ), or when the eyes are affected "Opsoclonus" Segmental If only one segment of the body is affected myoclonus is called "segmental"

45. Dégénérescences Spinocérébelleuses : Sites Et Documents Francophones
    Translate this page Arborescence(s) du thesaurus MeSH contenant le mot-clé dégénérescencesspinocérébelleuses spinocerebellar degenerations  
    http://www.chu-rouen.fr/ssf/pathol/degenerescencesspinocerebelleuses.html

46. E-STREAMS Vol. 3, No. 10 - December 2000
    16 Progressive Supranuclear Palsy 229. 17 Multiple System Atrophy 235. 18 FamilialAdultOnset spinocerebellar degenerations 243. 19 Corticobasal Degeneration 253.  
    http://www.e-streams.com/es0310/es0310_996.htm
    
    Extractions: Parkinson's Disease and Movement Disorders: Diagnosis and Treatment Guidelines for the Practicing Physician , edited by Charles H. Adler, Eric Ahlskog. Totowa, NJ, Humana Press, 2000. 474p., illus., bibliog., index. (Current Clinical Practice). ISBN 0-89603-607-3 . $125.00. LC Call no.: RC382.P2575 2000. NLM Call no.: WL 359 P24731 2000. Subjects: Parkinson's Disease; Movement Disorders. 35 contributors. Reviewer: Josephine L. Dorsch, Health Sciences Librarian, University of Illinois at Chicago Library of the Health Sciences Peoria, jod@uic.edu Table of Contents: 4 Clinical Features of Parkinson's Disease 71 5 Epidemiology and Genetics of Parkinson's Disease 85 6 Parkinson's Disease 91 7 Medication Strategies for Slowing the Progression of Parkinson's Disease 101 8 Initial Symptomatic Treatment of Parkinson's Disease 115 9 Advancing Parkinson's Disease and Treatment of Motor Complications 129 10 Sleep and Parkinson's Disease 151 11 Autonomic Complications of Parkinson's Disease 161 12 Treatment of Cognitive Disorders and Depression Associated with Parkinson's Disease 175 13 Surgical Treatment of Parkinson's Disease 185 14 Adjunctive Therapies in Parkinson's Disease 197 C. Parkinsonism but Not Parkinson's Disease (Other Akinetic-Rigid Syndromes) 209

47. Untitled
    The patients were classified according to the criteria made by the Research Committeeon spinocerebellar degenerations of The Japanese Ministry of Welfare and  
    http://www.m.chiba-u.ac.jp/med-journal/71/71-3/713ef.html

48. SPECIALIZZAZIONE
    namely, FRDA and. SCA1. 1 GREENFIELD JG The spinocerebellar degenerations.Springfield, IL Thomas, 1954. 2 KONIGSMARK BW, WEINER  
    http://www.fondazioneagarini.org/a_rizzuto.htm
    
    Extractions: TRIPLET NUCLEOTIDE REPEATS: THE SPINOCEREBELLAR ATAXIAS Rizzuto N., Fabrizi G.M. Verona - Italy The hereditary ataxias (HA) are a heterogeneous group of disorders caused by degeneration of the cerebellum and its afferent and efferent connections; pure cerebellar disease is a rare cause of ataxia. Classifications that were based on clinical, pathological and biochemical grounds have been useful though inadequate. Actually, HA disclose a phenotypical continuum ranging from pure cerebellar involvement, to cerebellar and basal ganglia involvement, or spinal syndromes including associated peripheral neuropathy ; furthermore, affected families with genetic homogeneity have marked phenotypical heterogeneity, whereas different genetic lesions lead to similar clinical and pathological syndromes. Very recent advances in genetics have made feasible a genetic classification which takes into account the specific molecular lesion (table 1). According to the type of inheritance, HA may be divided into autosomal dominant, autosomal recessive and maternally-inherited forms associated with mutations of the mitochondrial DNA (mtDNA).

49. S
    Spinal Muscular Atrophy. @ Spine Disorders; @ spinocerebellar degenerations;@ Sprains and Strains; @ Squint; @ SteinLeventhal Syndrome;  
    http://www.ad.com/Health/Conditions_and_Diseases/S/

50. Encyclopædia Britannica
    Acquired diseases of muscle. The spinal cord spinocerebellar degenerations;Inflammation; Trauma; Tumours; Subacute combined degeneration;  
    http://www.britannica.com/eb/article?eu=119952&tocid=75778&query=migraine&ct=

51. Parkinsonism
    Wilson’s disease. HallervordenSpatz disease. Olivopontocerebellar andspinocerebellar degenerations. Familial basal ganglia calcification.  
    http://www.thedoctorslounge.net/clinlounge/diseases/neuro/parkinsonism.htm

52. M2cnsdeg
    spinocerebellar degenerations include Pontocerebellar Atrophy, Friedreich'sAtaxia. Motor Neuron diseases include Amyotrophic Lateral Sclerosis.  
    http://www.neuro.nwu.edu/meded/m2/m2cnsdeg.html
    
    Extractions: CNS Degenerative Disease Numa Marquez-Sterling, MD, Northwestern University Medical School Return to Education Index This material is the lecture handout for the lecture of the same title for the Scientific Basis of Medicine Course, offered to 2nd Year Medical Students at Northwestern University Medical School. Background CNS degenerative diseases are characterized by progressive, selective neuronal loss in defined regions or functional systems (e.g., cerebellum, basal ganglia, upper or lower motor neurons, associative neocortex) with varying degrees of replacement gliosis . Associated histopathologic changes include neuronal inclusions (e.g., Lewy bodies , neurofibrillary tangles) and extraneuronal accumulations (e.g., senile plaques). Etiology or primary inciting pathophysiologic event is generally unknown (i.e., these diseases are generally regarded as idiopathic ). Degenerative diseases may be sporadic or inherited . For some diseases both sporadic (predominate) and inherited (lesser component; generally autosomal dominant) forms exist (e.g., sporadic and familial Alzheimer's Disease). Degenerative diseases range from very common (e.g., Alzheimer's Disease) to very rare (e.g., Hallervorden-Spatz Disease). Prevalence generally increases with age . Treatment options are generally quite limited and consist largely of palliative/supportive care. Goals / Basic Concepts 1. Understand the basic paradigm for neurodegenerative disease as summarized above (SEE also summary figures below).

53. Arch Neurol -- Page Not Found
    This finding is evident by the high paternal transmission of the diseasein the autosomal dominant spinocerebellar degenerations.  
    http://archneur.ama-assn.org/issues/v58n11/ffull/ned10002.html
    
    Extractions: The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"

54. Fried
    Friedrich's ataxia. The condition is one of the hereditary spinocerebellar degenerations.It is usually 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.

55. Open Classes's $p->page_title
    Open Directory Health Conditions and Diseases Neurological DisordersSpinal Cord spinocerebellar degenerations Previous Catagory.  
    http://dodo101.ath.cx/expat/odp.php/Health/Conditions_and_Diseases/Neurological_
    
    Extractions: Open Directory Edit Add URL Update URL Description ... Svenska Open Directory - Health: Conditions and Diseases: Neurological Disorders: Spinal Cord: Spinocerebellar Degenerations [ Previous Catagory Open Directory - Health: Conditions and Diseases: Neurological Disorders: Spinal Cord: Spinocerebellar Degenerations [ Previous Catagory All the Web AltaVista Deja Google ... Yahoo Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

56. Postgraduate Medicine: Primary Care Guide To Myoclonus And Chorea
    Symptomatic myoclonus A. Storage diseases B. spinocerebellar degenerations C. Basalganglia degenerations D. Dementias E. Infection or postinfectious syndromes  
    http://www.postgradmed.com/issues/2000/10_00/caviness.htm
    
    Extractions: John N. Caviness, MD VOL 108 / NO 5 / OCTOBER 2000 / POSTGRADUATE MEDICINE CME learning objectives The author discloses no financial interests in this article. This is the third of four articles on hyperkinetic movement disorders This page is best viewed with a browser that supports tables. Preview : Myoclonic and choreic disorders encompass a wide range of manifestations, from simple jerking during sleep in neurologically normal persons to wild, potentially injurious flailing in patients with ballismus. Recognition of the type and cause of the disorder is the first step toward helping patients achieve better functioning when possible. Dr Caviness reviews classification of myoclonus and chorea and discusses appropriate evaluation and the available treatment options.

57. Pages.infinit.net/macmike/internaf/archives/MJD.txt
    the patients. PATHOLOGY MachadoJoseph disease is classified as oneof the spinocerebellar degenerations. Careful autopsy studies  
    http://pages.infinit.net/macmike/internaf/archives/MJD.txt

58. Baylor Neurology Case Of The Month
    Most of the spinocerebellar degenerations have relatively late onsets (beyond theage of puberty), and most demonstrate some degree of cerebellar, pyramidal  
    http://www.bcm.tmc.edu/neurol/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.

59. EmailPinoy Web Directory
    . Ataxia@ (10 Top Health Conditions and Diseases Neurological Disorders SpinalCord spinocerebellar degenerations (5),  
    http://search.emailpinoy.com/cgi-bin/webpod.cgi/Health/Conditions_and_Diseases/N
    
    Extractions: more EMAILPINOY DIRECTORY Home Free E-mail Submit your site Free Web Space ... Latest News the entire directory only in Spinal_Cord/Spinocerebellar_Degenerations Top Health Conditions and Diseases Neurological Disorders ... Spinal Cord : Spinocerebellar Degenerations Description All the Web AltaVista Deja Google ... Yahoo This category needs an editor Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor This is a Mozzie free site

60. Ramsay Hunt's Syndrome I (www.whonamedit.com)
    rare. It has been classified under the spinocerebellar degenerations.Some of the cases are due to mitochondrial abnormalities.  
    http://www.whonamedit.com/synd.cfm/2245.html
    
    Extractions: 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. Ramsay Hunt in 1921 described a form of progressive cerebellar dyssynergia associated with myoclonic epilepsy. Characteristic features included generalized intention tremors that began as local manifestation in the extremities, especially the arms, and gradually extended to other parts of the voluntary muscular system. In addition to the coarse ataxic tremor that was present only when the muscles were in action and ceased during rest, severe involvement of the finer coordinated movements of the extremities was also present. Associated clinical features, combined with the myoclonus, and asthenia. Hunt also observed this syndrome in association with Friedreich's ataxia. Pathologic study of one case led him to consider that the symptoms were due to primary atrophy of the efferent dentate system of the cerebellum

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