Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia

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

Article  PubMed  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article  PubMed  Google Scholar 

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

Article 

留言 (0)

沒有登入
gif