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Tremor-associated short tandem repeat intermediate and pathogenic expansions in familial essential tremor.
Brain Commun
June 2024
Department of Geriatric Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China.
There is an obvious clinical-pathological overlap between essential tremor and some known tremor-associated short tandem repeat expansion disorders. The aim is to analyse whether these short tandem repeat genes, including , , , , , , , , , , , , , and , are associated with familial essential tremor patients. Genetic analysis of repeat sizes in tremor-associated short tandem repeat expansions was performed in a large cohort of 515 familial essential tremor probands and 300 controls.
View Article and Find Full Text PDFCAG repeat mosaicism is gene specific in spinocerebellar ataxias.
Am J Hum Genet
May 2024
Sorbonne Université, Paris Brain Institute - ICM, Inserm, CNRS, APHP, Hopital de la Pitié-Salpêtrière, Paris, France. Electronic address:
Expanded CAG repeats in coding regions of different genes are the most common cause of dominantly inherited spinocerebellar ataxias (SCAs). These repeats are unstable through the germline, and larger repeats lead to earlier onset. We measured somatic expansion in blood samples collected from 30 SCA1, 50 SCA2, 74 SCA3, and 30 SCA7 individuals over a mean interval of 8.
View Article and Find Full Text PDFWhole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study.
Lancet Neurol
March 2022
Genomics England, Queen Mary University of London, London, UK; William Harvey Research Institute, Queen Mary University of London, London, UK. Electronic address:
Background: Repeat expansion disorders affect about 1 in 3000 individuals and are clinically heterogeneous diseases caused by expansions of short tandem DNA repeats. Genetic testing is often locus-specific, resulting in underdiagnosis of people who have atypical clinical presentations, especially in paediatric patients without a previous positive family history. Whole genome sequencing is increasingly used as a first-line test for other rare genetic disorders, and we aimed to assess its performance in the diagnosis of patients with neurological repeat expansion disorders.
View Article and Find Full Text PDFEffect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China.
Zhong Nan Da Xue Xue Bao Yi Xue Ban
August 2021
Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008.
Objectives: Spinocerebellar ataxia type 2 (SCA2) is one of the most common autosomal dominant ataxias in the world. Several reports revealed that CAG repeats in some polyQ-containing genes may affect the age at onset (AAO) of patients with SCA2, however, little studies were conducted among Chinese patients with SCA2. Thus, the aim of this study is to evaluate the effect of CAG repeats on the AAO of patients with SCA2 in China.
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