Medicina Buenos Aires ; Heterogeneous mutation processes in human microsatellite DNA sequences. Nat Genet ; Repeat instability: mechanisms of dynamic mutations.

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Sanjana Mahavadi. No Downloads. Views Total views. Actions Shares. Embeds 0 No embeds. No notes for slide. Ataxia 1. Ataxia 2. Handbook of Ataxia Disorders. Chapter 4. Clinical approach to Ataxic Patients, pag Klockgether, T.

Handbook ofNAota xdiaispDoisnoridbelres. Diagnosis and management of early- and late-onset cerebellar ataxia. Clin Genet 12— Pensar en Encefalitis cerebelosa viral. Historia fliar - no excluye. Sporadic ataxia with adult onset: classification and diagnostic criteria. Siempre Oftalmologia retinografia fluorescencia Desorden Alt.

Cockayne Distrofia retinal Klockgether, T. Tumores, isquemia, hemorragia y desmielinizacion focal EM. You just clipped your first slide! Clipping is a handy way to collect important slides you want to go back to later. Now customize the name of a clipboard to store your clips. Visibility Others can see my Clipboard. Cancel Save.


Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed. This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications. Additional information. Other search option s Alphabetical list.


2016, Número 1

The NINDS supports and conducts a broad range of basic and clinical research on cerebellar and spinocerebellar degeneration, including work aimed at finding the cause s of ataxias and ways to treat, cure, and, ultimately, prevent them. Scientists are optimistic that understanding the genetics of these disorders may lead to breakthroughs in treatment. Ataxia often occurs when parts of the nervous system that control movement are damaged. People with ataxia experience a failure of muscle control in their arms and legs, resulting in a lack of balance and coordination or a disturbance of gait. While the term ataxia is primarily used to describe this set of symptoms, it is sometimes also used to refer to a family of disorders. It is not, however, a specific diagnosis.


Spinocerebellar ataxias comprise a large and expanding group of diseases characterized by degeneration of the spinal cord and cerebellum. Although individual spinocerebellar ataxias vary in morphological changes, atrophy of the cerebellum is a relatively constant finding. Extracerebellar regions are also affected, depending on the specific SCA 1. Neurodegenerative diseases are legion and their classification just as protean. A useful approach is to divide them according to underlying pathological process, although even using this schema, there is much overlap and thus resulting confusion.



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