Hereditary cerebellar ataxias with polyneuropathy
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...
| Main Author: | |
|---|---|
| Format: | Article |
| Language: | Russian |
| Published: |
IMA-PRESS LLC
2015-10-01
|
| Series: | Неврология, нейропсихиатрия, психосоматика |
| Subjects: | |
| Online Access: | https://nnp.ima-press.net/nnp/article/view/535 |
| _version_ | 1797876457453649920 |
|---|---|
| author | Svetlana Vasilyevna Kopishinskaya |
| author_facet | Svetlana Vasilyevna Kopishinskaya |
| author_sort | Svetlana Vasilyevna Kopishinskaya |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-10T02:03:31Z |
| format | Article |
| id | doaj.art-d381f55270f2461da09d01cebe5cae1a |
| institution | Directory Open Access Journal |
| issn | 2074-2711 2310-1342 |
| language | Russian |
| last_indexed | 2024-04-10T02:03:31Z |
| publishDate | 2015-10-01 |
| publisher | IMA-PRESS LLC |
| record_format | Article |
| series | Неврология, нейропсихиатрия, психосоматика |
| spelling | doaj.art-d381f55270f2461da09d01cebe5cae1a2023-03-13T08:42:15ZrusIMA-PRESS LLCНеврология, нейропсихиатрия, психосоматика2074-27112310-13422015-10-0173757910.14412/2074-2711-2015-3-75-79505Hereditary cerebellar ataxias with polyneuropathySvetlana Vasilyevna Kopishinskaya0Nizhny Novgorod State Medical Academy, Ministry of Health of RussiaThe 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.https://nnp.ima-press.net/nnp/article/view/535ataxiapolyneuropathyceliac diseasegluten |
| spellingShingle | Svetlana Vasilyevna Kopishinskaya Hereditary cerebellar ataxias with polyneuropathy Неврология, нейропсихиатрия, психосоматика ataxia polyneuropathy celiac disease gluten |
| title | Hereditary cerebellar ataxias with polyneuropathy |
| title_full | Hereditary cerebellar ataxias with polyneuropathy |
| title_fullStr | Hereditary cerebellar ataxias with polyneuropathy |
| title_full_unstemmed | Hereditary cerebellar ataxias with polyneuropathy |
| title_short | Hereditary cerebellar ataxias with polyneuropathy |
| title_sort | hereditary cerebellar ataxias with polyneuropathy |
| topic | ataxia polyneuropathy celiac disease gluten |
| url | https://nnp.ima-press.net/nnp/article/view/535 |
| work_keys_str_mv | AT svetlanavasilyevnakopishinskaya hereditarycerebellarataxiaswithpolyneuropathy |