[西班牙人群中主要遗传性共济失调和弗里德赖希共济失调的分布情况]

[Distribution of dominant hereditary ataxias and Friedreich's ataxia in the Spanish population].

作者信息

Mayo Cabrero D, Hernández Cristóbal J, Cantarero Duque S, Martínez Delgado B, Urioste Azcorra M, Robledo Batanero M, García-Ruiz Espiga P, Benítez Ortiz J

机构信息

Departamento de Genética, Fundación Jiménez Díaz, Madrid.

出版信息

Med Clin (Barc). 2000 Jun 24;115(4):121-5. doi: 10.1016/s0025-7753(00)71484-9.

DOI:10.1016/s0025-7753(00)71484-9

PMID:10996881

Abstract

BACKGROUND

To establish the distribution of the different forms of dominant ataxias and Friedreich ataxia in Spanish population.

PATIENTS AND METHODS

We have performed a molecular study in 121 patients presenting ataxia as the first sign of neurodegenerative disease. In these patients, we have performed a molecular study of SCA 1, SCA 2, SCA 3, SCA 6, SCA 7, SCA 8, DRPLA, alpha-TTP (tocopherol transfer protein) and Friedreich's ataxia genes.

RESULTS

The study showed that the Friedreich ataxia is the most frequent form representing 34.4% of the total of the hereditary ataxias. One patient presented mutation in alpha-TTP gene. Among the dominant forms SCA 3 was the most frequent (27.3%) followed by SCA 7 (16%), SCA 6 (9%) and SCA 2 (4.5%). We have not found mutations in SCA 1 and DRPLA genes. Two of 60 apparently sporadic cases presented mutations in the SCA 6 and SCA 8.

CONCLUSIONS

The genetic analysis is the principal method to distinguish the different clinic forms of ataxia. We have not found mutations in 41.2% of dominant forms and in 43.3% of recessive forms. These results suggest the existence of new candidates genes.

摘要

背景

确定西班牙人群中不同类型显性共济失调和弗里德赖希共济失调的分布情况。

患者与方法

我们对121例以共济失调为神经退行性疾病首发症状的患者进行了分子研究。在这些患者中，我们对脊髓小脑共济失调1型（SCA 1）、脊髓小脑共济失调2型（SCA 2）、脊髓小脑共济失调3型（SCA 3）、脊髓小脑共济失调6型（SCA 6）、脊髓小脑共济失调7型（SCA 7）、脊髓小脑共济失调8型（SCA 8）、齿状核红核苍白球路易体萎缩症（DRPLA）、α-生育酚转移蛋白（α-TTP）和弗里德赖希共济失调基因进行了分子研究。

结果

研究表明，弗里德赖希共济失调是最常见的类型，占遗传性共济失调总数的34.4%。1例患者α-TTP基因发生突变。在显性类型中，SCA 3最为常见（27.3%），其次是SCA 7（16%）、SCA 6（9%）和SCA 2（4.5%）。我们未在SCA 1和DRPLA基因中发现突变。60例明显散发的病例中有2例在SCA 6和SCA 8基因中发生了突变。