对[具体内容1]和[具体内容2]中GAA重复扩增的临床相互作用的评估。 （你提供的原文中“in and.”部分内容不完整，以上是根据已有信息给出的翻译）
Assessment of the Clinical Interactions of GAA Repeat Expansions in and .
作者信息
Gerhart Brandon J, Pellerin David, Danzi Matt C, Zuchner Stephan, Brais Bernard, Matos-Rodrigues Gabriel, Nussenzweig Andre, Usdin Karen, Park Courtney C, Napierala Jill S, Lynch David R, Napierala Marek
机构信息
From the Department of Neurology (B.J.G., J.S.N., M.N.), O'Donnell Brain Institute, University of Texas Southwestern Medical Center, Dallas; Department of Neurology and Neurosurgery (D.P., B.B.), Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada; Department of Neuromuscular Diseases (D.P.), UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, University College London, United Kingdom; Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics (M.C.D., S.Z.), University of Miami Miller School of Medicine, FL; Department of Human Genetics (B.B.), McGill University, Montreal, Quebec, Canada; Laboratory of Genome Integrity (G.M.-R., A.N.), National Cancer Institute, NIH; Laboratory of Cell and Molecular Biology (K.U.), National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD; and Department of Pediatrics and Neurology (C.C.P., D.R.L.), The Children's Hospital of Philadelphia, PA.
出版信息
Neurol Genet. 2024 Nov 20;10(6):e200210. doi: 10.1212/NXG.0000000000200210. eCollection 2024 Dec.
BACKGROUND AND OBJECTIVES
The number of GAA repeats in the gene is a major but not sole determinant of the clinical presentation of Friedreich ataxia (FRDA). The objective of this study was to establish whether the length of the GAA repeat tract in the gene, which is associated with another neurodegenerative disorder (SCA27B), affects the clinical presentation (age at onset, mFARS score) of patients with FRDA.
METHODS
The number of GAA repeats in the and genes was determined using PCR in a cohort of 221 patients with FRDA. Next, we compared absolute lengths of the GAAs with GAAs, followed by correlative analyses to determine potential effects of GAA length on age at onset and clinical presentation (mFARS) of FRDA.
RESULTS
We found no significant correlation between the size of the GAA repeats in and loci in our FRDA cohort. Moreover, the number of GAAs in did not affect the clinical presentation of FRDA even in a small number of cases where a long allele was present.
DISCUSSION
Despite both molecular and clinical similarities between FRDA and SCA27B, the length of the GAA repeats in the gene, including potentially pathogenic alleles, did not influence the clinical presentation of FRDA.
背景与目的
基因中GAA重复序列的数量是弗里德赖希共济失调（FRDA）临床表现的主要但非唯一决定因素。本研究的目的是确定与另一种神经退行性疾病（SCA27B）相关的基因中GAA重复序列的长度是否会影响FRDA患者的临床表现（发病年龄、改良FARS评分）。
方法
在221例FRDA患者队列中，使用聚合酶链反应（PCR）测定基因和基因中GAA重复序列的数量。接下来，我们比较了基因中GAA与基因中GAA的绝对长度，随后进行相关性分析，以确定基因中GAA长度对FRDA发病年龄和临床表现（改良FARS）的潜在影响。
结果
我们发现在我们的FRDA队列中，基因和基因座中GAA重复序列的大小之间没有显著相关性。此外，即使在少数存在长等位基因的情况下，基因中GAA的数量也不影响FRDA的临床表现。
讨论
尽管FRDA和SCA27B在分子和临床方面存在相似之处，但基因中GAA重复序列的长度，包括潜在的致病等位基因，并未影响FRDA的临床表现。
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