罕见的共济失调基因突变是散发性小脑共济失调的不常见病因。
Mutations in rare ataxia genes are uncommon causes of sporadic cerebellar ataxia.
机构信息
Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California 90095, USA.
出版信息
Mov Disord. 2012 Mar;27(3):442-6. doi: 10.1002/mds.24064. Epub 2012 Jan 27.
BACKGROUND
Sporadic-onset ataxia is common in a tertiary care setting but a significant percentage remains unidentified despite extensive evaluation. Rare genetic ataxias, reported only in specific populations or families, may contribute to a percentage of sporadic ataxia.
METHODS
Patients with adult-onset sporadic ataxia, who tested negative for common genetic ataxias (SCA1, SCA2, SCA3, SCA6, SCA7, and/or Friedreich ataxia), were evaluated using a stratified screening approach for variants in 7 rare ataxia genes.
RESULTS
We screened patients for published mutations in SYNE1 (n = 80) and TGM6 (n = 118), copy number variations in LMNB1 (n = 40) and SETX (n = 11), sequence variants in SACS (n = 39) and PDYN (n = 119), and the pentanucleotide insertion of spinocerebellar ataxia type 31 (n = 101). Overall, we identified 1 patient with a LMNB1 duplication, 1 patient with a PDYN variant, and 1 compound SACS heterozygote, including a novel variant.
CONCLUSIONS
The rare genetic ataxias examined here do not significantly contribute to sporadic cerebellar ataxia in our tertiary care population.
背景
在三级医疗保健环境中，偶发性共济失调很常见，但尽管进行了广泛的评估，仍有很大比例的病因仍未确定。罕见的遗传性共济失调仅在特定人群或家族中报道，可能导致一部分偶发性共济失调。
方法
我们对成年起病的偶发性共济失调患者进行了分层筛查，这些患者已排除常见遗传性共济失调（SCA1、SCA2、SCA3、SCA6、SCA7 和/或弗里德里希共济失调），以检测 7 种罕见共济失调基因中的变异。
结果
我们对 SYNE1（n=80）和 TGM6（n=118）的已发表突变、LMNB1（n=40）和 SETX（n=11）的拷贝数变异、SACS（n=39）和 PDYN（n=119）的序列变异以及脊髓小脑性共济失调 31 型的五核苷酸插入（n=101）进行了筛查。总的来说，我们发现了 1 例 LMNB1 重复，1 例 PDYN 变异和 1 例 SACS 复合杂合子，包括 1 种新变异。
结论
在这里检查的罕见遗传性共济失调并未显著导致我们的三级保健人群中的散发性小脑性共济失调。
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