A Cysteinyl-tRNA Synthetase Mutation Causes Novel Autosomal-Dominant Inheritance of a Parkinsonism/Spinocerebellar-Ataxia Complex

Dueñas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain 2006, 129: 1357–1370.

Article  PubMed  Google Scholar 

Schöls L, Peters S, Szymanski S, Krüger R, Lange S, Hardt C. Extrapyramidal motor signs in degenerative ataxias. Arch Neurol 2000, 57: 1495–1500.

Article  PubMed  Google Scholar 

van Gaalen J, Giunti P, van de Warrenburg BP. Movement disorders in spinocerebellar ataxias. Mov Disord 2011, 26: 792–800.

Article  PubMed  Google Scholar 

Ashizawa T, Öz G, Paulson HL. Spinocerebellar ataxias: Prospects and challenges for therapy development. Nat Rev Neurol 2018, 14: 590–605.

Article  PubMed  PubMed Central  Google Scholar 

Durr A. Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond. Lancet Neurol 2010, 9: 885–894.

Article  CAS  PubMed  Google Scholar 

Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis. Lancet Neurol 2004, 3: 291–304.

Article  PubMed  Google Scholar 

Chen Y, Chen Y, Shi C, Huang Z, Zhang Y, Li S, et al. SOAPnuke: A MapReduce acceleration-supported software for integrated quality control and preprocessing of high-throughput sequencing data. Gigascience 2018, 7: gix120.

Article  PubMed  Google Scholar 

Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25: 1754–1760.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Danecek P, Bonfield JK, Liddle J, Marshall J, Ohan V, Pollard MO, et al. Twelve years of SAMtools and BCFtools. GigaScience 2021, 10: giab008.

Article  PubMed  PubMed Central  Google Scholar 

McKenna A, Hanna M, Banks E, Sivachenko A, Cibulskis K, Kernytsky A, et al. The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 2010, 20: 1297–1303.

Article  CAS  PubMed  PubMed Central  Google Scholar 

McLaren W, Pritchard B, Rios D, Chen Y, Flicek P, Cunningham F. Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor. Bioinformatics 2010, 26: 2069–2070.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Karczewski KJ, Francioli LC, Tiao G, Cummings BB, Alföldi J, Wang Q, et al. The mutational constraint spectrum quantified from variation in 141, 456 humans. Nature 2020, 581: 434–443.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cao Y, Li L, Xu M, Feng Z, Sun X, Lu J, et al. The ChinaMAP analytics of deep whole genome sequences in 10, 588 individuals. Cell Res 2020, 30: 717–731.

Article  PubMed  PubMed Central  Google Scholar 

Gao Y, Zhang C, Yuan L, Ling Y, Wang X, Liu C, et al. PGG.Han: The Han Chinese genome database and analysis platform. Nucleic Acids Res 2020, 48: D971–D976.

Article  CAS  PubMed  Google Scholar 

Dolzhenko E, Deshpande V, Schlesinger F, Krusche P, Petrovski R, Chen S, et al. ExpansionHunter: A sequence-graph-based tool to analyze variation in short tandem repeat regions. Bioinformatics 2019, 35: 4754–4756.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Shakkottai VG, Fogel BL. Clinical neurogenetics: Autosomal dominant spinocerebellar ataxia. Neurol Clin 2013, 31: 987–1007.

Article  PubMed  Google Scholar 

Tankard RM, Bennett MF, Degorski P, Delatycki MB, Lockhart PJ, Bahlo M. Detecting expansions of tandem repeats in cohorts sequenced with short-read sequencing data. Am J Hum Genet 2018, 103: 858–873.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rafehi H, Read J, Szmulewicz DJ, Davies KC, Snell P, Fearnley LG, et al. An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14. Am J Hum Genet 2023, 110: 1018.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abyzov A, Urban AE, Snyder M, Gerstein M. CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing. Genome Res 2011, 21: 974–984.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Quinlan AR, Hall IM. BEDTools: A flexible suite of utilities for comparing genomic features. Bioinformatics 2010, 26: 841–842.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Layer RM, Chiang C, Quinlan AR, Hall IM. LUMPY: A probabilistic framework for structural variant discovery. Genome Biol 2014, 15: R84.

Article  PubMed  PubMed Central  Google Scholar 

Chiang C, Layer RM, Faust GG, Lindberg MR, Rose DB, Garrison EP, et al. SpeedSeq: Ultra-fast personal genome analysis and interpretation. Nat Methods 2015, 12: 966–968.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abel HJ, Larson DE, Regier AA, Chiang C, Das I, Kanchi KL, et al. Mapping and characterization of structural variation in 17, 795 human genomes. Nature 2020, 583: 83–89.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Abecasis GR, Cherny SS, Cookson WO, Cardon LR. Merlin—rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002, 30: 97–101.

Article  CAS  PubMed  Google Scholar 

Blauwendraat C, Nalls MA, Singleton AB. The genetic architecture of Parkinson’s disease. Lancet Neurol 2020, 19: 170–178.

Article  CAS  PubMed  Google Scholar 

Liu Y, Niu L, Liu X, Cheng C, Le W. Recent progress in non-motor features of Parkinson’s disease with a focus on circadian rhythm dysregulation. Neurosci Bull 2021, 37: 1010–1024.

Article  PubMed  PubMed Central  Google Scholar 

Tseng FS, Foo JQX, Mai AS, Tan EK. The genetic basis of multiple system atrophy. J Transl Med 2023, 21: 104.

Article  PubMed  PubMed Central  Google Scholar 

Landrum MJ, Chitipiralla S, Brown GR, Chen C, Gu B, Hart J, et al. ClinVar: Improvements to accessing data. Nucleic Acids Res 2020, 48: D835–D844.

Article  CAS  PubMed  Google Scholar 

Jarvik GP, Browning BL. Consideration of cosegregation in the pathogenicity classification of genomic variants. Am J Hum Genet 2016, 98: 1077–1081.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kumar P, Henikoff S, Ng PC. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009, 4: 1073–1081.

Article  CAS  PubMed 

Comments (0)

No login
gif