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Hereditary cerebellar ataxias with polyneuropathy

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The paper gives a brief clinical characterization of hereditary cerebellar ataxias running with polyneuropathy. Particular attention is paid to the pathogenesis, clinical presentation, and treatment of gluten ataxia. A mutant gene and concurrent symptoms are indicated. The differential diagnosis of cerebellar ataxias should be started by ruling out the hereditary nature of the disease, which is verified by molecular genetic testing. In recent years, some genetic diseases manifesting themselves by a concurrence of ataxia and polyneuropathy have been replenished by a description of new hereditary syndromes. The knowledge of the nature of inheritance, age at disease onset, and concurrent manifestations will assist a practitioner in presuming the diagnosis of a rare disease and in referring a patient for medical genetic testing. Only a precise diagnosis will be able to assess prognosis and to use specific treatment.

About the Author

Svetlana Vasilyevna Kopishinskaya
Nizhny Novgorod State Medical Academy, Ministry of Health of Russia
Russian Federation
10/1 Minin and Pozharsky Sq., Nizhny Novgorod 603005


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For citations:

Kopishinskaya S.V. Hereditary cerebellar ataxias with polyneuropathy. Neurology, Neuropsychiatry, Psychosomatics. 2015;7(3):75-79. (In Russ.)

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