Analyses génétiques et affections spino-cérébelleuses : splendeurs et misères

Pratique Neurologique - FMC - Tập 13 - Trang 46-50 - 2022
C. Tranchant1
1Service de neurologie, centre de référence neuro-génétique, hôpitaux universitaires de Strasbourg, 1, avenue Molière, 67000 Strasbourg, France

Tài liệu tham khảo

Rossi, 2018, International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders. The genetic nomenclature of recessive cerebellar ataxias, Mov Disord, 33, 1056, 10.1002/mds.27415 Kalia, 2017, et al Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics, Genet Med, 19, 249, 10.1038/gim.2016.190 Richards, 2015, ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a jointconsensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology, Genet Med, 17, 405, 10.1038/gim.2015.30 Parodi, 2018, Hereditary ataxias and paraparesias: clinical and genetic update, Curr Opin Neurol, 31, 462, 10.1097/WCO.0000000000000585 Anheim, 2012, The autosomal recessive cerebellar ataxias, N Engl J Med, 366, 636, 10.1056/NEJMra1006610 Renaud, 2017, A recessive ataxia diagnosis algorithm for the next generation sequencing era, Ann Neurol, 82, 892, 10.1002/ana.25084 Dragašević-Mišković, 2022, Autosomal recessive adult onset ataxia, J Neurol, 269, 504, 10.1007/s00415-021-10763-8 Cortese, 2019, Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia, Nat Genet, 51, 649, 10.1038/s41588-019-0372-4 Migliaccio, 2004, Cerebellar ataxia with bilateral vestibulopathy: description of a syndrome and its characteristic clinical sign, Brain J Neurol, 127, 280, 10.1093/brain/awh030 Cortese, 2020, Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion, Brain, 143, 480, 10.1093/brain/awz418 Traschütz, 2021, Natural history, phenotypic spectrum, and discriminative features of multisystemic RFC1 disease, Neurology, 96, e1369, 10.1212/WNL.0000000000011528 Sullivan, 2021, RFC1-related ataxia is a mimic of early multiple system atrophy, J Neurol Neurosurg Psychiatry, 92, 444, 10.1136/jnnp-2020-325092 Hall, 2014, Emerging topics in FXTAS, J Neurodev Disord, 6, 31, 10.1186/1866-1955-6-31 Cabal-Herrera, 2020, Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): pathophysiology and clinical implications, Int J Mol Sci, 21, 4391, 10.3390/ijms21124391 Sullivan, 2019, Spinocerebellar ataxia: an update, J Neurol, 266, 533, 10.1007/s00415-018-9076-4 Gebus, 2017, Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work, J Neurol, 264, 1118, 10.1007/s00415-017-8500-5 de Silva, 2019, Diagnosis and management of progressive ataxia in adults, Pract Neurol, 19, 196, 10.1136/practneurol-2018-002096 Parodi, 2017, Hereditary spastic paraplegia: more than an upper motor neuron disease, Rev Neurol (Paris), 173, 352, 10.1016/j.neurol.2017.03.034 Coarelli, 2019, Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7, Neurology, 92, e2679, 10.1212/WNL.0000000000007606 Klebe, 2012, Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy, Brain, 135, 2980, 10.1093/brain/aws240 Synofzik, 2017, Overcoming the divide between ataxias and spastic paraplegias: Shared phenotypes, genes, and pathways, Mov Disord, 32, 332, 10.1002/mds.26944 Coutelier, 2017, A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies, Brain, 140, 1579, 10.1093/brain/awx081 Sánchez-Ferrero, 2013, SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V, Clin Genet, 83, 257, 10.1111/j.1399-0004.2012.01896.x Roux, 2020, Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment, Genet Med, 22, 1851, 10.1038/s41436-020-0899-x Ravel, 2021, Expanding the clinical spectrum of STIP1 homology and U-box containing protein 1-associated ataxia, J Neurol, 268, 1927, 10.1007/s00415-020-10348-x Accogli, 2020, Heterozygous missense pathogenic variants within the second spectrin repeat of SPTBN2 lead to infantile-onset cerebellar ataxia, J Child Neurol, 35, 106, 10.1177/0883073819878917 Utine, 2013, A homozygous deletion in GRID2 causes a human henotype with cerebellar ataxia and atrophy, J Child Neurol, 28, 926, 10.1177/0883073813484967