تقرير
POLR3A-related disorders: expanding the clinical phenotype.
| العنوان: | POLR3A-related disorders: expanding the clinical phenotype. |
|---|---|
| المؤلفون: | McKenna MC; Neurology Department, St. James's Hospital, Dublin 8, Ireland. maryclaremck@icloud.com., O'Connor A; Neurology Department, Tallaght University Hospital, Dublin 24, Ireland., Lockhart A; Neurology Department, St. James's Hospital, Dublin 8, Ireland., Bogdanova-Mihaylova P; Neurology Department, Tallaght University Hospital, Dublin 24, Ireland., Brett F; Neuropathology Department, Beaumont Hospital, Dublin 9, Ireland., Langan Y; Neurophysiology Department, St. James's Hospital, Dublin 8, Ireland., Meaney J; Radiology Department, St. James's Hospital, Dublin 8, Ireland., Costigan D; Neurology and Neurophysiology Department, Mater Private Hospital, Dublin 7, Ireland., Doherty CP; Neurology Department, St. James's Hospital, Dublin 8, Ireland.; Academic Unit of Neurology, School of Medicine, Trinity College Dublin, Dublin 2, Ireland., Bede P; Neurology Department, St. James's Hospital, Dublin 8, Ireland., Murphy SM; Neurology Department, Tallaght University Hospital, Dublin 24, Ireland.; Academic Unit of Neurology, School of Medicine, Trinity College Dublin, Dublin 2, Ireland., Hutchinson S; Neurology Department, St. James's Hospital, Dublin 8, Ireland. |
| المصدر: | Journal of neurology [J Neurol] 2024 Jun; Vol. 271 (6), pp. 3635-3638. Date of Electronic Publication: 2024 Feb 27. |
| نوع المنشور: | Letter; Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Berlin ; New York, Springer-Verlag |
| مواضيع طبية MeSH: | Phenotype* , RNA Polymerase III*/genetics , RNA Polymerase III*/immunology, Humans ; Male ; Female ; Mutation |
| References: | Di Donato I, Gallo A, Ricca I, Fini N, Silvestri G, Gurrieri F, Cirillo M, Cerase A, Natale G, Matrone F, Riso V, Melone MAB, Tessa A, De Michele G, Federico A, Filla A, Dotti MT, Santorelli FM (2022) POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients. Neurol Sci 43:1071–1077. (PMID: 10.1007/s10072-021-05462-134296356) Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmüller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brüstle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schöls L, Nürnberg P, Zuchner S, Klockgether T, Ramirez A, Schüle R (2017) Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain 140:1561–1578. (PMID: 10.1093/brain/awx095284599976402316) Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL (2015) 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 17:405–424. (PMID: 10.1038/gim.2015.30257418684544753) La Piana R, Cayami FK, Tran LT, Guerrero K, van Spaendonk R, Õunap K, Pajusalu S, Haack T, Wassmer E, Timmann D, Mierzewska H, Poll-Thé BT, Patel C, Cox H, Atik T, Onay H, Ozkınay F, Vanderver A, van der Knaap MS, Wolf NI, Bernard G (2016) Diffuse hypomyelination is not obligate for POLR3-related disorders. Neurology 86:1622–1626. (PMID: 10.1212/WNL.0000000000002612270296254844237) Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmüller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Müller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC (2018) Specific combinations of biallelic POLR3A variants cause Wiedemann–Rautenstrauch syndrome. J Med Genet 55:837–846. (PMID: 10.1136/jmedgenet-2018-10552830323018) Minnerop M, Kurzwelly D, Rattay TW, Timmann D, Hengel H, Synofzik M, Stendel C, Horvath R, Schüle R, Ramirez A (2018) Reply: POLR3A variants in hereditary spastic paraplegia and ataxia. Brain 141:e2. (PMID: 10.1093/brain/awx29129236946) Rydning SL, Koht J, Sheng Y, Sowa P, Hjorthaug HS, Wedding IM, Erichsen AK, Hovden IA, Backe PH, Tallaksen CME, Vigeland MD, Selmer KK (2019) Biallelic POLR3A variants confirmed as a frequent cause of hereditary ataxia and spastic paraparesis. Brain 142:e12. (PMID: 10.1093/brain/awz041308474716439323) Gauquelin L, Tétreault M, Thiffault I, Farrow E, Miller N, Yoo B, Bareke E, Yoon G, Suchowersky O, Dupré N, Tarnopolsky M, Brais B, Wolf NI, Majewski J, Rouleau GA, Gan-Or Z, Bernard G (2018) POLR3A variants in hereditary spastic paraplegia and ataxia. Brain 141:e1. (PMID: 10.1093/brain/awx29029228109) Sytsma TM, Chen DH, Rolf B, Dorschner M, Jayadev S, Keene CD, Zhang J, Bird TD, Latimer CS (2022) Spinal cord-predominant neuropathology in an adult-onset case of POLR3A-related spastic ataxia. Neuropathology 42:58–65. (PMID: 10.1111/neup.1277534753215) de Assis Pereira Matos PCA, Gama MTD, Bezerra MLE, da Rocha AJ, Barsottini OGP, Pedroso JL (2020) POLR3A-related disorder presenting with late-onset dystonia and spastic paraplegia. Mov Disord Clin Pract 7:467–469. (PMID: 10.1002/mdc3.12945323736687197309) Infante J, Serrano-Cárdenas KM, Corral-Juan M, Farré X, Sánchez I, de Lucas EM, García A, Martín-Gurpegui JL, Berciano J, Matilla-Dueñas A (2020) POLR3A-related spastic ataxia: new mutations and a look into the phenotype. J Neurol 267:324–330. (PMID: 10.1007/s00415-019-09574-931637490) Harting I, Al-Saady M, Krägeloh-Mann I, Bley A, Hempel M, Bierhals T, Karch S, Moog U, Bernard G, Huntsman R, van Spaendonk RML, Vreeburg M, Rodríguez-Palmero A, Pujol A, van der Knaap MS, Pouwels PJW, Wolf NI (2020) POLR3A variants with striatal involvement and extrapyramidal movement disorder. Neurogenetics 21:121–133. (PMID: 10.1007/s10048-019-00602-4319401167064625) Musumeci A, Calì F, Scuderi C, Vinci M, Vitello GA, Musumeci SA, Chiavetta V, Federico C, Amore G, Saccone S, Di Rosa G, Nicotera AG (2022) Identification of a novel missense mutation of POLR3A gene in a cohort of Sicilian patients with leukodystrophy. Biomedicines 10:2276. (PMID: 10.3390/biomedicines10092276361403769496502) |
| المشرفين على المادة: | EC 2.7.7.6 (RNA Polymerase III) EC 2.7.7.6 (POLR3A protein, human) |
| تواريخ الأحداث: | Date Created: 20240227 Date Completed: 20240529 Latest Revision: 20240621 |
| رمز التحديث: | 20240621 |
| DOI: | 10.1007/s00415-024-12265-9 |
| PMID: | 38413463 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1432-1459 |
|---|---|
| DOI: | 10.1007/s00415-024-12265-9 |