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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

Medicine On Earth: Amedeo Who's Who In Medicine
JanFeb;27(1)60-5. Abstract Sridharan R, Radhakrishnan K, Ashok PP, Mousa ME Prevalenceand pattern of spinocerebellar degenerations in northeastern Libya.
http://www.medicineonearth.com/display.php?id=2785&language=1
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 Refsums 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 Clarkes column Degeneration with gliosis. Hence sensory (dorsal root) and proprioceptive (Clarkes column) loss. The Cells of Clarkes 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 Refsums disease, Charcot-Marie-Tooth disease, and the Roussy-Levy syndrome; but these certainly fall into the province of the specialist neurologist.
Genetic Testing
Zoghbi, HY et al., The spinocerebellar degenerations. In Current Diagnosisin Neurology, ed. E. Feldmann, 87110. 1993. St. Louis Mosby.
http://www.athenadiagnostics.com/site/product_search/test_reference_template.asp
Rare Disorders Conditions And Diseases Health English
Friedreich Ataxia English Health Conditions and Diseases Neurological DisordersSpinal Cord spinocerebellar degenerations Friedreich s Ataxia ? Galactosemia
http://www.interactiva.org/Dir/I/English/Health/Conditions_and_Diseases/Rare_Dis
Understanding Dementia
and Pick s disease, subcortical dementia may be caused by Parkinson s disease, Huntington sdisease, Wilson s disease, spinocerebellar degenerations, Lewy body
http://www.flonnet.com/fl2006/stories/20030328001108000.htm

Extractions: At the 23rd T.S. Srinivasan Endowment Oration on Dementia in Chennai, Venu Srinivasan (left) presenting a memento to Prof. Jeffrey Cummings. Prof. Krishnamoorthy Srinivas (second right) and T.T. Vasu, Chairman, Public Health and Welfare Society look on. IN 1950, the world had 12 people in the working age group to support every person above 65. But by the turn of the millennium, there were hardly nine, and by 2050, it is estimated that there will be barely four persons. With life expectancy at birth increasing rapidly, the world's population of the aged has risen, and with it, their problems. In India, life expectancy at birth has increased by 30 years since Independence, and it is higher for women than men. According to the World Health Organisation (WHO), India's population of those aged over 65, which was 40 million in 1997, is to increase to 108 million by 2025 and 240 million by 2050. This means a several-fold increase in age-related problems such as dementia - a condition characterised by progressively declining memory and intellectual functions. The WHO, which estimates that two out of every three patients with dementia will soon be in developing countries, warns of a virtual dementia epidemic in India and the urgent need to prepare to face it.
Eugenio Medea - Scientific Research
dysmorphisms; congenital CNS PNS pathologies; epilepsy; rare syndromes; degenerativediseases spinocerebellar degenerations; neurosensory disorders.
http://www.emedea.it/english_medea/research.html
Cerebellar Ataxia ? What Does Everyone Want To Know About Cerebellar Ataxia? Her
Ataxia by Patricia Birdsong Hamilton Neural transplantation in cerebellar ataxiaby Lazaros Constantinos Triarhou spinocerebellar degenerations by Tokyo
http://health.xq23.com/conditions/part_2/cerebellar_ataxia.html
îbawUu`m[g
striatonigral dopaminergic system ?. l-dopa. c) spinocerebellar degenerations.1) Olivopontocerebellar atrophy (OPCA) .
http://www.showa.gunma-u.ac.jp/~nakazato/pathol/lecture/bp2lect.html

Extractions: aÏÌÊÆÇó neuron glia (astrocytes, oligodendroglia, microglia, ependymal cells) myelin skull ]³´iCwjA CSF ªÇC×ÛEîáÌgU no lymphatics a) »^« Purulent meningitis, pyogenic m. ×Û: E. coli, CtGUÛ, ÛCxÛ NÌ÷AàºoÌøo¨ micro:@DAfibrin @ b) p« ECX«C mumps, ECHO, RNTL[ @ c) « TB, tuberculous meningitis, ]ê syphilitic meningitis @ a) OCèpCskullÌÇi¨AûË´A@oj temporal cerebellum frontal base @ b) s« nidus .............. necrotic debris, bacteria abscess membrane ... fibrovascular tissue gliosis ............ astrocytes @ a) Acute viral infection neuronÏ« - neuronophagia, glial nodules inclusion body - intranuclear intracytoplasmic mononuclear cell infiltration "perivascular cuffing" lymphocytes, plasma cells tropism aIð« 1) Japanese B encephalitis Flavi virus RK^AJCGJ@@Ä`H@@N`Éæè¸ W¾ 2) Herpes simplex encephalitis ¬AÂN v¦70%@Ü½ÍsðAL¯r¸ acute necrotizing encephalitis oAóAî»AjàüÌ AraC ªø b) Slow virus infection 1) Subacute sclerosing panencephalitis (SSPE) measles (defective virus) 2) Progressive multifocal leukoencephalopathy (PML) JC virus 12ÎÅ65%ÉRÌz« c) Prion diseases 1) Creutzfeldt-Jakob disease (CJD) 30 kDa Ì prion` (proteinous infectious agent)
Wauu.DE: Health: Conditions And Diseases: Neurological Disorders: Spinal Cord: S
Translate this page Wauu.DE Health Conditions and Diseases Neurological DisordersSpinal Cord spinocerebellar degenerations.
http://www.wauu.de/Health/Conditions_and_Diseases/Neurological_Disorders/Spinal_

Extractions: © 1998- 2002 Ein Service von Wauu.de UserNet.DE Linktip: MnogoSearch.ORG Map TopTen TopTen eng Aktuelle Linktips Mozilla 1.7 RC 1 Basteln 0190 Warner Free Rund ums Rad ... Fantasy - Shop Webmaster-Links Webspace Free Subdomain Service Merchandise Fun SUMA - Forum ... Abmahnungen ber Wauu Regeln Webmasterservice Impressum b
Wauu.DE: Health: Conditions And Diseases: Neurological Disorders: Spinal Cord: S
Wauu.DE Health Conditions and Diseases Neurological DisordersSpinal Cord spinocerebellar degenerations Friedreich Ataxia.
http://www.wauu.de/Health/Conditions_and_Diseases/Neurological_Disorders/Spinal_

Extractions: © 1998- 2002 Ein Service von Wauu.de UserNet.DE Linktip: MnogoSearch.ORG Map TopTen TopTen eng Aktuelle Linktips Mozilla 1.7 RC 1 Basteln 0190 Warner Free Rund ums Rad ... Fantasy - Shop Webmaster-Links Webspace Free Subdomain Service Merchandise Fun SUMA - Forum ... Abmahnungen ber Wauu Regeln Webmasterservice Impressum b
Neurological Disorders
Porencephaly (4). Rett Syndrome (10) Personal Pages. Spinal Cord (13)Epidural Abscess,Compression,spinocerebellar degenerations
http://www.posterbreak.com/Health/Conditions_and_Diseases/Neurological_Disorders
Untitled Document
ATAXIA; spinocerebellar degenerations. Referencias bibliográficas.
http://www.bvs.sld.cu/revistas/ibi/vol22_3_03/ibi09303.htm

Extractions: Estudios recientes indican que la proteína ATM aparece cuando ocurren roturas en la doble cadena del ADN durante la meiosis o la mitosis, o como consecuencia del daño causado por los radicales libres. También se ha descrito que el producto del gen ATM fosforila directamente a p53, factor de transcripción que se activa en situaciones de estrés celular, y que además interactúa con otras moléculas que participan en la reparación, así como en la señalización celular como ATR, chk-1, chk-2, RPA, BRCA1, BRCA2, NF kappab, entre otros; por lo que se conoce como la "quinasa jerárquica".
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.
Nervous System Disease -- 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=75751&query=tinnitus&ct=
Nervous System Disease -- Encyclopædia Britannica
spinocerebellar degenerations are a group of inherited disorders characterizedby atrophy of the central nervous system and of peripheral nerves.
http://www.britannica.com/eb/article?eu=119952&tocid=75758&query=scoliosis&ct=
Summary
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
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: 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.
Neurological Disorders
Porencephaly(4). Rett Syndrome(10) Personal Pages. Spinal Cord(13) EpiduralAbscess, Compression, spinocerebellar degenerations, Tabes Dorsalis.
http://www.jaspergifts.com/Health/Conditions_and_Diseases/Neurological_Disorders
DiseaseSeek.com Spinocerebellar_Degenerations
Conditions and Diseases Neurological Disorders Spinal Cord SpinocerebellarDegenerations Found 0 sites about spinocerebellar degenerations.
http://www.diseaseseek.com/categories/Health__Conditions_and_Diseases__Neurologi
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"

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