Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia.
Clément G, Puisieux S, Pellerin D, Brais B, Bonnet C, Renaud M.
Rev Neurol (Paris). 2024 May;180(5):410-416. doi: 10.1016/j.neurol.2024.03.007. Epub 2024 Apr 11.
A clinical diagnostic algorithm for early onset cerebellar ataxia.
Brandsma R, Verschuuren-Bemelmans CC, Amrom D, Barisic N, Baxter P, Bertini E, Blumkin L, Brankovic-Sreckovic V, Brouwer OF, Bürk K, Catsman-Berrevoets CE, Craiu D, de Coo IFM, Gburek J, Kennedy C, de Koning TJ, Kremer HPH, Kumar R, Macaya A, Micalizzi A, Mirabelli-Badenier M, Nemeth A, Nuovo S, Poll-The B, Lerman-Sagie T, Steinlin M, Synofzik M, Tijssen MAJ, Vasco G, Willemsen MAAP, Zanni G, Valente EM, Boltshauser E, Sival DA.
Eur J Paediatr Neurol. 2019 Sep;23(5):692-706. doi: 10.1016/j.ejpn.2019.08.004. Epub 2019 Aug 10.
Early-onset cerebellar ataxia in a patient with CMT2A2.
Madrid R, Guariglia SR, Haworth A, Korosh W, Gavin M, Lyon GJ.
Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005108. doi: 10.1101/mcs.a005108. Print 2020 Jun.
Diagnosis and management of early- and late-onset cerebellar ataxia.
Brusse E, Maat-Kievit JA, van Swieten JC.
Clin Genet. 2007 Jan;71(1):12-24. doi: 10.1111/j.1399-0004.2006.00722.x.
Early onset cerebellar ataxia with retained reflexes: a clinical and genetic conundrum.
Teive HA.
Arq Neuropsiquiatr. 2013 Jun;71(6):341-2. doi: 10.1590/0004-282X20130089.
How to distinguish spinocerebellar ataxia 27B from late onset cerebellar ataxia: insights from a case-control study.
Pinheiro-Barbosa R, Cissé C, Bastos P, Leung C, Traon AP, Kermorgant M, Bonneville F, Renaud M, Bonnet C, Wandzel M, Roth V, Rascol O, Ory-Magne F, Fabbri M.
J Neurol. 2024 Dec 12;272(1):45. doi: 10.1007/s00415-024-12738-x.
"Phalanx sign" helps to discriminate MSA-C from idiopathic late onset cerebellar ataxia.
Schneider V, Wirth T, Iosif A, Montaut S, Lagha-Boukbiza O, Tranchant C, Anheim M.
J Neurol. 2022 Jul;269(7):3900-3903. doi: 10.1007/s00415-022-10994-3. Epub 2022 Feb 11.
Neurophysiologic studies in early-onset cerebellar ataxia.
Schelhaas HJ, van de Warrenburg BP, Bos MM, Houtman CJ, Scheffer H, Gabreëls-Festen A, Kremer B, Zwarts MJ.
J Clin Neurophysiol. 2006 Aug;23(4):381-7. doi: 10.1097/01.wnp.0000216262.54227.7a.
A Novel Pathogenic Variant in the SCA25-Related Gene Expanding the Etiology of Early-Onset and Progressive Cerebellar Ataxia in Childhood.
Ferrera G, Izzo R, Ghezzi D, Nanetti L, Lamantea E, Ardissone A.
Neuropediatrics. 2024 Apr;55(2):135-139. doi: 10.1055/a-2205-2402. Epub 2023 Nov 7.
Clinical spectrum of early onset cerebellar ataxia with retained tendon reflexes: an autosomal recessive ataxia not to be missed.
Pedroso JL, Braga-Neto P, Ricarte IF, Albuquerque MV, Barsottini OG.
Arq Neuropsiquiatr. 2013 Jun;71(6):345-8. doi: 10.1590/0004-282X20130036.
