Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era

Christina Votsi; Kyproula Christodoulou

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Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era

Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era

作者：

Christina Votsi Kyproula Christodoulou

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Autosomal

RECESSIVE

cerebellar

ATAXIA

Whole-exome

SEQUENCING

WHOLE-GENOME

SEQUENCING

HOMOZYGOSITY

mapping

generation

SEQUENCING

摘要：

Autosomal recessive cerebellar ataxias(ARCA)are a clinically and genetically heterogeneous group of rare neurodegenerative disorders characterized by autosomal recessive inheritance and an early age of onset.Progressive ataxia is usually the prominent symptom and is often associated with other neurological or additional features.ARCA classification still remains controversial even though different approaches have been proposed over the years.Furthermore,ARCA molecular diagnosis has been a challenge due to phenotypic overlap and increased genetic heterogeneity observed within this group of disorders.Friedreich’s ataxia and ataxia telangiectasia have been reported as the most frequent and well-studied forms of ARCA.Significant progress in understanding the genetic etiologies of the ARCA has been achieved during the last 15 years.The methodological revolution that has been observed in genetics over the last few years has contributed significantly to the molecular diagnosis of rare diseases including the ARCAs.Development of high throughput technologies has resulted in the identification of new ARCA genes and novel mutations in known ARCA genes.Therefore,an improvement in the molecular diagnosis of ARCA is expected.Moreover,based on the fact that many patients still remain undiagnosed,additional forms of ataxia are expected to be identified.We hereby review the current knowledge on the ARCAs,focused on the genetic findings of the most common forms that were molecularly characterized before the whole exome/genome era,as well as the most recently described forms that have been elucidated with the use of these novel technologies.The significant contribution of wholeexome sequencing or whole-genome sequencing in the molecular diagnosis of ARCAs is discussed.

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篇名	Molecular diagnosis of autosomal recessive cerebellar ataxia in the whole exome/genome sequencing era
来源期刊	世界神经病学杂志	学科	医学
关键词	Autosomal RECESSIVE cerebellar ATAXIA Whole-exome SEQUENCING WHOLE-GENOME SEQUENCING HOMOZYGOSITY mapping Next generation SEQUENCING
年，卷（期）	2013,（4）	所属期刊栏目
研究方向		页码范围	115-128
页数	14页	分类号	R
字数		语种
DOI