Genetics of inherited ataxias
- 作者：Cocozza ; Sergio
- 刊名：Electroencephalography and Clinical Neurophysiology
- 出版年：1997
- 期刊代码：84_00134694
- 类别：med
- 出版时间：July, 1997
- 卷：103
- 期：1
- 页码：20
- 文件大小：125 K
摘要
Inherited ataxias are a heterogeneous group of diseases characterized by cerebellar dysfunction that can be either isolated or accompanied by other neurological manifestations. Autosomal dominant, autosomal recessive and X-linked patterns of inheritance were observed in ataxias. The presence of significant overlap among phenotypes of different genetic forms and the presence of different phenotypes within the same form, makes the classification of the hereditary ataxias based on clinical or histopathological findings very difficult. In the past year, significant research progress has been accomplished by applying molecular genetic studies to the inherited ataxias. Several genetic loci of inherited ataxias were identified and several causing disease genes were cloned. The gene involved in Friedreich's ataxia, the most frequent form among the recessive ataxias, has been identified as well as several genes responsible of dominant forms. The expansion of an unstable trinucleotide repeat has been recognized as the molecular mechanism of the disease in most ataxias. This mutational mechanism explains the presence of the clinical phenomenon of anticipation in several dominant forms. The finding of an unstable repeat will facilitate the diagnosis in familial and isolated cases and will allow preclinical and prenatal diagnosis in families with this disease. In addition, significant research progress has been accomplished in the field of hereditary ataxias associated with DNA repair defects. The understanding of the functional roles of the genes involved in inherited ataxias could facilitate the knowledge of mechanisms involved in neuronal degeneration.