1PösO, RadvanszkyJ, BuglyóG, PösZ, RusnakovaD, NagyB, et al. DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects. Biomed J. 2021Oct;44(5):548–59. DOI: 10.1016/j.bj.2021.02.003
3RiggsER, AndersenEF, CherryAM, KantarciS, KearneyH, PatelA, et al. Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020Feb;22(2):245–57. DOI: 10.1038/s41436-019-0686-8
6PehlivanD, BeckCR, OkamotoY, HarelT, AkdemirZHC, JhangianiSN, et al. The role of combined SNV and CNV burden in patients with distal symmetric polyneuropathy. Genet Med. 2016May;18(5):443–51. DOI: 10.1038/gim.2015.124
8OrrHT, ChungMY, BanfiS, KwiatkowskiTJ, ServadioA, BeaudetAL, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet. 1993Jul;4(3):221–6. DOI: 10.1038/ng0793-221
9KawaguchiY, OkamotoT, TaniwakiM, AizawaM, InoueM, KatayamaS, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet. 1994Nov;8(3):221–8. DOI: 10.1038/ng1194-221
10HsiehM, LinSJ, ChenJF, LinHM, HsiaoKM, LiSY, et al. Identification of the spinocerebellar ataxia type 7 mutation in Taiwan: application of PCR-based Southern blot. J Neurol. 2000Aug;247(8):623–9. DOI: 10.1007/s004150070131
11van der VeenS, ZuttR, KleinC, MarrasC, BerkovicSF, CavinessJN, et al. Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force. Mov Disord. 2019Nov;34(11):1602–13. DOI: 10.1002/mds.27828
14A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. The Huntington’s Disease Collaborative Research Group. Cell. 1993Mar26;72(6):971–83. DOI: 10.1016/0092-8674(93)90585-E
16Hensman MossDJ, PoulterM, BeckJ, HehirJ, PolkeJM, CampbellT, et al. C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies. Neurology. 2014Jan28;82(4):292–9. DOI: 10.1212/WNL.0000000000000061
19KambourisM, BohlegaS, Al-TahanA, MeyerBF. Localization of the gene for a novel autosomal recessive neurodegenerative Huntington-like disorder to 4p15.3. Am J Hum Genet. 2000Feb;66(2):445–52. DOI: 10.1086/302744
20MagriS, NanettiL, GelleraC, SartoE, RizzoE, MongelliA, et al. Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48. Genet Med. 2022Jan;24(1):29–40. DOI: 10.1016/j.gim.2021.08.003
21BurkeJR, WingfieldMS, LewisKE, RosesAD, LeeJE, HuletteC, et al. The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet. 1994Aug;7(4):521–4. DOI: 10.1038/ng0894-521
22BecherMW, RubinszteinDC, LeggoJ, WagsterMV, StineOC, RanenNG, et al. Dentatorubral and pallidoluysian atrophy (DRPLA). Clinical and neuropathological findings in genetically confirmed North American and European pedigrees. Mov Disord. 1997Jul;12(4):519–30. DOI: 10.1002/mds.870120408
23GrimaldiS, CupidiC, SmirneN, BernardiL, GiacaloneF, PiccioneG, et al. The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy. Mov Disord. 2019Dec;34(12):1919–24. DOI: 10.1002/mds.27879
27BreedveldGJ, van DongenJWF, DanesinoC, GualaA, PercyAK, DureLS, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet. 2002Apr15;11(8):971–9. DOI: 10.1093/hmg/11.8.971
30MencacciNE, KamsteegEJ, NakashimaK, R’BiboL, LynchDS, BalintB, et al. De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions. Am J Hum Genet. 2016Apr7;98(4):763–71. DOI: 10.1016/j.ajhg.2016.02.015
31DiggleCP, Sukoff RizzoSJ, PopiolekM, HinttalaR, SchülkeJP, KurianMA, et al. Biallelic Mutations in PDE10A Lead to Loss of Striatal PDE10A and a Hyperkinetic Movement Disorder with Onset in Infancy. Am J Hum Genet. 2016Apr7;98(4):735–43. DOI: 10.1016/j.ajhg.2016.03.015
33OpalP, TintnerR, JankovicJ, LeungJ, BreakefieldXO, FriedmanJ, et al. Intrafamilial phenotypic variability of the DYT1 dystonia: from asymptomatic TOR1A gene carrier status to dystonic storm. Mov Disord. 2002Mar;17(2):339–45. DOI: 10.1002/mds.10096
34KammC, FischerH, GaravagliaB, KullmannS, SharmaM, SchraderC, et al. Susceptibility to DYT1 dystonia in European patients is modified by the D216H polymorphism. Neurology. 2008Jun3;70(23):2261–2. DOI: 10.1212/01.wnl.0000313838.05734.8a
37IchinoseH, OhyeT, TakahashiE, SekiN, HoriT, SegawaM, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet. 1994Nov;8(3):236–42. DOI: 10.1038/ng1194-236
38HiranoM, ImaisoY, UenoS. Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia. Biochem Biophys Res Commun. 1997May19;234(2):316–9. DOI: 10.1006/bbrc.1997.6632
39DomingoA, LeeLV, BrüggemannN, FreimannK, KaiserFJ, JamoraRDG, et al. Woman with x-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?JAMA Neurol. 2014Sep;71(9):1177–80. DOI: 10.1001/jamaneurol.2014.56
40AneichykT, HendriksWT, YadavR, ShinD, GaoD, VaineCA, et al. Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. Cell. 2018Feb22;172(5):897–909.e21. DOI: 10.1016/j.cell.2018.02.011
41GianfrancescoO, GearyB, SavageAL, BillingsleyKJ, BubbVJ, QuinnJP. The Role of SINE-VNTR-Alu (SVA) Retrotransposons in Shaping the Human Genome. Int J Mol Sci. 2019Nov27;20(23):5977. DOI: 10.3390/ijms20235977
42De GregorioL, JinnahHA, HarrisJC, NyhanWL, SchretlenDJ, TrombleyLM, et al. Lesch-Nyhan disease in a female with a clinically normal monozygotic twin. Molecular genetics and metabolism [Internet]. 2005May [cited 2024 Oct 6];85(1). Available from: https://pubmed.ncbi.nlm.nih.gov/15862283/. DOI: 10.1016/j.ymgme.2004.11.009
44SteelD, ZechM, ZhaoC, BarwickKES, BurkeD, DemaillyD, et al. Loss-of-Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities. Ann Neurol. 2020Nov;88(5):867–77. DOI: 10.1002/ana.25879
47GardinerSL, BoogaardMW, TrompetS, de MutsertR, RosendaalFR, GusseklooJ, et al. Prevalence of Carriers of Intermediate and Pathological Polyglutamine Disease-Associated Alleles Among Large Population-Based Cohorts. JAMA Neurol. 2019Jun1;76(6):650–6. DOI: 10.1001/jamaneurol.2019.0423
48Scott SSde O, PedrosoJL, BarsottiniOGP, França-JuniorMC, Braga-NetoP. Natural history and epidemiology of the spinocerebellar ataxias: Insights from the first description to nowadays. J Neurol Sci. 2020Oct15;417:117082. DOI: 10.1016/j.jns.2020.117082
50Kraus-PerrottaC, LagalwarS. Expansion, mosaicism and interruption: mechanisms of the CAG repeat mutation in spinocerebellar ataxia type 1. Cerebellum Ataxias. 2016;3:20. DOI: 10.1186/s40673-016-0058-y
51MenonRP, NethisingheS, FaggianoS, VannocciT, RezaeiH, PembleS, et al. The role of interruptions in polyQ in the pathology of SCA1. PLoS Genet. 2013;9(7):e1003648. DOI: 10.1371/journal.pgen.1003648
53TanD, WeiC, ChenZ, HuangY, DengJ, LiJ, et al. CAG Repeat Expansion in THAP11 Is Associated with a Novel Spinocerebellar Ataxia. Mov Disord. 2023Jul;38(7):1282–93. DOI: 10.1002/mds.29412
55DominikN, MagriS, CurròR, AbatiE, FacchiniS, CorbettaM, et al. Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis. Brain. 2023Dec1;146(12):5060–9.
58AssenzaG, BenvengaA, GennaroE, TombiniM, CampanaC, AssenzaF, et al. A novel c132–134del mutation in Unverricht-Lundborg disease and the review of literature of heterozygous compound patients. Epilepsia. 2017Feb;58(2):e31–5. DOI: 10.1111/epi.13626
59CanafogliaL, GennaroE, CapovillaG, GobbiG, BoniA, BeccariaF, et al. Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations. Epilepsia. 2012Dec;53(12):2120–7. DOI: 10.1111/j.1528-1167.2012.03718.x
60KoskenkorvaP, HyppönenJ, AikiäM, MervaalaE, KivirantaT, ErikssonK, et al. Severer phenotype in Unverricht-Lundborg disease (EPM1) patients compound heterozygous for the dodecamer repeat expansion and the c.202C>T mutation in the CSTB gene. Neurodegener Dis. 2011;8(6):515–22. DOI: 10.1159/000323470
61ManciniGMS, SchotR, de WitMCY, de CooRF, OostenbrinkR, Bindels-de HeusK, et al. CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. Neurology. 2016Mar1;86(9):877–8. DOI: 10.1212/WNL.0000000000002422
62O’BrienA, MarshallCR, BlaserS, RayPN, YoonG. Severe neurodegeneration, progressive cerebral volume loss and diffuse hypomyelination associated with a homozygous frameshift mutation in CSTB. Eur J Hum Genet. 2017Jun;25(6):775–8. DOI: 10.1038/ejhg.2017.39
67BeheraS, CatreuxS, RossiM, TruongS, HuangZ, RuehleM, et al. Comprehensive and accurate genome analysis at scale using DRAGEN accelerated algorithms. bioRxiv. 2024Jan6;2024.01.02.573821. DOI: 10.1101/2024.01.02.573821
68Leija-SalazarM, SedlazeckFJ, ToffoliM, MullinS, MokretarK, AthanasopoulouM, et al. Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION. Mol Genet Genomic Med. 2019Mar;7(3):e564. DOI: 10.1002/mgg3.564
69ToffoliM, ChenX, SedlazeckFJ, LeeCY, MullinS, HigginsA, et al. Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene. Commun Biol. 2022Jul6;5(1):670. DOI: 10.1038/s42003-022-03610-7
70NicastroN, RanzaE, AntonarakisSE, HorvathJ. Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation. Cerebellum. 2016Dec;15(6):829–31. DOI: 10.1007/s12311-015-0749-6
75KnightMA, HernandezD, DiedeSJ, DauwerseHG, RaffertyI, van de LeemputJ, et al. A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20. Hum Mol Genet. 2008Dec15;17(24):3847–53. DOI: 10.1093/hmg/ddn283
77RichardsS, AzizN, BaleS, BickD, DasS, Gastier-FosterJ, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015May;17(5):405–24. DOI: 10.1038/gim.2015.30
78PejaverV, ByrneAB, FengBJ, PagelKA, MooneySD, KarchinR, et al. Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria. Am J Hum Genet. 2022Dec1;109(12):2163–77. DOI: 10.1016/j.ajhg.2022.10.013
79Mirza-SchreiberN, ZechM, WilsonR, BrunetT, WagnerM, JechR, et al. Blood DNA methylation provides an accurate biomarker of KMT2B-related dystonia and predicts onset. Brain. 2022Apr18;145(2):644–54. DOI: 10.1093/brain/awab360
80ChungMY, RanumLP, DuvickLA, ServadioA, ZoghbiHY, OrrHT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet. 1993Nov;5(3):254–8. DOI: 10.1038/ng1193-254
81NanceMA. Genetic counseling and testing for Huntington’s disease: A historical review. Am J Med Genet B Neuropsychiatr Genet. 2017Jan;174(1):75–92. DOI: 10.1002/ajmg.b.32453
82Pinto E VairoF, KemppainenJL, VitekCRR, WhalenDA, KolbertKJ, SikkinkKJ, et al. Implementation of genomic medicine for rare disease in a tertiary healthcare system: Mayo Clinic Program for Rare and Undiagnosed Diseases (PRaUD). J Transl Med. 2023Jun23;21(1):410. DOI: 10.1186/s12967-023-04183-7
86AudetS, TriassiV, GelinasM, Legault-CadieuxN, FerraroV, DuquetteA, et al. Integration of multi-omics technologies for molecular diagnosis in ataxia patients. Front Genet. 2023;14:1304711. DOI: 10.3389/fgene.2023.1304711
88ChenZ, TucciA, CiprianiV, GustavssonEK, IbañezK, ReynoldsRH, et al. Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia. Brain. 2023Jul3;146(7):2869–84. DOI: 10.1093/brain/awad009
91FlorianRT, KraftF, LeitãoE, KayaS, KlebeS, MagninE, et al. Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. Nat Commun. 2019Oct29;10(1):4919.
94WilliamsLJ, WallerS, QiuJ, InnesE, ElserafyN, ProcopisP, et al. DHDDS and NUS1: A Converging Pathway and Common Phenotype. Mov Disord Clin Pract. 2024Jan;11(1):76–85. DOI: 10.1002/mdc3.13920