Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, et al. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med. 2023;388:128–41. https://doi.org/10.1056/NEJMoa2207406
Article CAS PubMed Google Scholar
Wilke C, Pellerin D, Mengel D, Traschutz A, Danzi MC, Dicaire MJ, et al. GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response. Brain. 2023. https://doi.org/10.1093/brain/awad157
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 SCA50/ATX-FGF14. Am J Hum Genet. 2023;110:105–19. https://doi.org/10.1016/j.ajhg.2022.11.015
Article CAS PubMed Google Scholar
Hengel H, Pellerin D, Wilke C, Fleszar Z, Brais B, Haack T, et al. As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort. Mov Disord. 2023;38:1557–8. https://doi.org/10.1002/mds.29559
Article CAS PubMed Google Scholar
Milovanovic A, Dragasevic-Miskovic N, Thomsen M, Borsche M, Hinrichs F, Westenberger A, et al. RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia. Mov Disord Clin Pract. 2024. https://doi.org/10.1002/mdc3.14020
Mereaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, et al. Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions. EBioMedicine. 2024;99:104931 https://doi.org/10.1016/j.ebiom.2023.104931
Article CAS PubMed Google Scholar
Kartanou C, Mitrousias A, Pellerin D, Kontogeorgiou Z, Iruzubieta P, Dicaire MJ, et al. The FGF14 GAA repeat expansion in Greek patients with late-onset cerebellar ataxia and an overview of the SCA27B phenotype across populations. Clin Genet. 2024;105:446–52. https://doi.org/10.1111/cge.14482
Article CAS PubMed Google Scholar
Zeng YH, Gan SR, Chen WJ. Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. N Engl J Med. 2023;388, https://doi.org/10.1056/NEJMc2301605
Ouyang R, Wan L, Pellerin D, Long Z, Hu J, Jiang Q, et al. The genetic landscape and phenotypic spectrum of GAA-FGF14 ataxia in China: a large cohort study. EBioMedicine. 2024;102:105077 https://doi.org/10.1016/j.ebiom.2024.105077
Article CAS PubMed PubMed Central Google Scholar
Ando M, Higuchi Y, Yuan J, Yoshimura A, Kojima F, Yamanishi Y, et al. Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan. Ann Clin Transl Neurol. 2024;11:96–104. https://doi.org/10.1002/acn3.51936
Article CAS PubMed Google Scholar
Harding AE. “Idiopathic” late onset cerebellar ataxia. A clinical and genetic study of 36 cases. J Neurol Sci. 1981;51:259–71. https://doi.org/10.1016/0022-510x(81)90104-0
Article CAS PubMed Google Scholar
Gilman S, Wenning GK, Low PA, Brooks DJ, Mathias CJ, Trojanowski JQ, et al. Second consensus statement on the diagnosis of multiple system atrophy. Neurology. 2008;71:670–6. https://doi.org/10.1212/01.wnl.0000324625.00404.15
Article CAS PubMed PubMed Central Google Scholar
Schmitz-Hübsch T, du Montcel ST, Baliko L, Berciano J, Boesch S, Depondt C, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology. 2006;66:1717–20. https://doi.org/10.1212/01.wnl.0000219042.60538.92
Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, et al. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci. 1997;145:205–11. https://doi.org/10.1016/s0022-510x(96)00231-6
Article CAS PubMed Google Scholar
Maas RP, van Gaalen J, Klockgether T, van de Warrenburg BP. The preclinical stage of spinocerebellar ataxias. Neurology. 2015;85:96–103. https://doi.org/10.1212/wnl.0000000000001711
Qiu H, Wu C, Liang J, Hu M, Chen Y, Huang Z, et al. Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage. Eur Radiol. 2023;33:2881–94. https://doi.org/10.1007/s00330-022-09214-3
Article CAS PubMed Google Scholar
Nolano M, Provitera V, Manganelli F, Iodice R, Stancanelli A, Caporaso G, et al. Loss of cutaneous large and small fibers in naive and l-dopa-treated PD patients. Neurology. 2017;89:776–84. https://doi.org/10.1212/wnl.0000000000004274
Article CAS PubMed Google Scholar
Andrich J, Schmitz T, Saft C, Postert T, Kraus P, Epplen JT, et al. Autonomic nervous system function in Huntington’s disease. J Neurol Neurosurg Psychiatry. 2002;72:726–31. https://doi.org/10.1136/jnnp.72.6.726
Article CAS PubMed PubMed Central Google Scholar
Bonnet C, Pellerin D, Roth V, Clement G, Wandzel M, Lambert L, et al. Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B. Sci Rep. 2023;13:9737 https://doi.org/10.1038/s41598-023-36654-8
Article CAS PubMed PubMed Central Google Scholar
Li H. Minimap2: pairwise alignment for nucleotide sequences. Bioinformatics. 2018;34:3094–100. https://doi.org/10.1093/bioinformatics/bty191
Article CAS PubMed PubMed Central Google Scholar
Robinson JT, Thorvaldsdóttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nat Biotechnol. 2011;29:24–6. https://doi.org/10.1038/nbt.1754
Article CAS PubMed PubMed Central Google Scholar
Chiu R, Rajan-Babu IS, Friedman JM, Birol I. Straglr: discovering and genotyping tandem repeat expansions using whole genome long-read sequences. Genome Biol. 2021;22:224 https://doi.org/10.1186/s13059-021-02447-3
Article CAS PubMed PubMed Central Google Scholar
Yau WY, Sullivan R, Chen Z, Lynch DS, Vandrovcova J, Wood NW, et al. GGC Repeat Expansion in NOTCH2NLC Is Rare in European Leukoencephalopathy. Ann Neurol. 2020;88:641–2. https://doi.org/10.1002/ana.25818
Article CAS PubMed Google Scholar
Chen Z, Yan Yau W, Jaunmuktane Z, Tucci A, Sivakumar P, Gagliano Taliun SA, et al. Neuronal intranuclear inclusion disease is genetically heterogeneous. Ann Clin Transl Neurol. 2020;7:1716–25. https://doi.org/10.1002/acn3.51151
Article CAS PubMed PubMed Central Google Scholar
Labuda M, Labuda D, Miranda C, Poirier J, Soong BW, Barucha NE, et al. Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology. 2000;54:2322–4. https://doi.org/10.1212/wnl.54.12.2322
Article CAS PubMed Google Scholar
Depienne C, Mandel JL. 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? Am J Hum Genet. 2021;108:764–85. https://doi.org/10.1016/j.ajhg.2021.03.011
Article CAS PubMed PubMed Central Google Scholar
Pianese L, Cavalcanti F, De Michele G, Filla A, Campanella G, Calabrese O, et al. The effect of parental gender on the GAA dynamic mutation in the FRDA gene. Am J Hum Genet. 1997;60:460–3.
CAS PubMed PubMed Central Google Scholar
Vetrugno R, Liguori R, Cortelli P, Montagna P. Sympathetic skin response: basic mechanisms and clinical applications. Clin Auton Res. 2003;13:256–70. https://doi.org/10.1007/s10286-003-0107-5
Corral-Juan M, Casquero P, Giraldo-Restrepo N, Laurie S, Martinez-Pineiro A, Mateo-Montero RC, et al. New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49). Brain Commun. 2022;4:fcac030. https://doi.org/10.1093/braincomms/fcac030
留言 (0)