Subramony S H
Department of Neurology, University of Mississippi Medical Center, Jackson 39216-4505.
Curr Opin Neurol. 1994 Aug;7(4):316-22. doi: 10.1097/00019052-199408000-00007.
This review summarizes recent advances that have taken place in the field of inherited ataxias. There is increasing understanding of these disorders, primarily because of advances in the field of molecular genetics. Although the Friedreich's ataxia gene has not been cloned yet, there is increasing information about the precise location of this mutation. The chromosomal location for a distinct type of recessive ataxia associated with vitamin E deficiency was discovered. An adult- onset Friedreich's phenotype may result from a gene abnormality of the same locus as classic Friedreich's ataxia. Two distinct types of dominantly inherited ataxic syndromes are due to different trinucleotide repeat mutations, one on chromosome 6 (spinocerebellar ataxia type 1) and another on chromosome 12 (dentatorubropallidoluysian atrophy). The genes for Machado-Joseph disease as well as for a distinct type of dominantly inherited ataxia originally described from Cuba were mapped to chromosome 14 and chromosome 12, respectively. Advances were made in defining the imaging abnormalities seen in different types of ataxias.
本综述总结了遗传性共济失调领域的最新进展。对这些疾病的认识不断增加，这主要归功于分子遗传学领域的进展。尽管弗里德赖希共济失调基因尚未克隆，但关于该突变精确位置的信息越来越多。发现了与维生素E缺乏相关的一种独特类型隐性共济失调的染色体定位。成人发病的弗里德赖希表型可能由与经典弗里德赖希共济失调相同位点的基因异常导致。两种不同类型的显性遗传性共济失调综合征是由不同的三核苷酸重复突变引起的，一种位于6号染色体（脊髓小脑共济失调1型），另一种位于12号染色体（齿状核红核苍白球路易体萎缩）。马查多 - 约瑟夫病的基因以及最初在古巴描述的一种独特类型的显性遗传性共济失调的基因分别被定位到14号染色体和12号染色体。在确定不同类型共济失调中所见的影像学异常方面取得了进展。
