Abstract
Onset of Machado-Joseph disease (SCA3/MJD) before adolescence has been rarely reported. This study aims to describe a cohort of SCA3/MJD with onset before 12 years of age, comparing their disease progression with the progression observed in patients with usual disease onset. We identified all cases from our cohort whose onset was before adolescence. After consent, patients were examined with clinical scales Scale for the Assessment and Rating of Ataxia (SARA) and Neurological Examination Score for Spinocerebellar Ataxia (NESSCA). Gender, age, age at onset, disease duration, CAG expanded repeats, transmitting parent, and anticipation of cases with infantile and adult onset were studied. Progression of NESSCA and SARA scores was estimated through a mixed model, and was compared with a historical group with onset after adolescence. Between 2000 and 2014, 461 symptomatic individuals from our region were diagnosed as SCA3/MJD. Onset of eight cases (2.2%), all heterozygotes, was before adolescence: seven were females (p = 0.054). CAG expanded repeats--75 ± 3 versus 84 ± 4--and anticipations--7 ± 9.7 versus 14.4 ± 7.2 years--were different between early childhood and adult onset groups (p < 0.03). The median survival of early childhoo...Continue Reading
References
Jul 1, 1978·Neurology·P Coutinho, C Andrade
Sep 1, 1991·European Journal of Epidemiology·M HaltiaD C Gajdusek
Nov 1, 1984·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·A BarbeauD M Dawson
Nov 1, 1994·Nature Genetics·Y KawaguchiI Akiguchi
Jul 1, 1993·Nature Genetics·Y TakiyamaS Ohta
Apr 1, 1996·Annals of Neurology·A DürrA Brice
Feb 1, 1997·Neurology·Y X ZhouS Tsuji
May 13, 1998·Brain : a Journal of Neurology·T KlockgetherJ Dichgans
Jun 19, 2001·Archives of Neurology·L B JardimR Giugliani
Oct 9, 2001·Acta Neurologica Scandinavica·L B JardimR Giugliani
Nov 16, 2001·Archives of Neurology·P MacielJ Sequeiros
Jun 14, 2006·Neurology·T Schmitz-HübschRoberto Fancellu
Sep 27, 2007·Clinical Genetics·C KielingL B Jardim
Mar 4, 2008·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·C KielingL B Jardim
Mar 25, 2008·Pediatric Neurology·Daniel R CarvalhoCarlos E Speck-Martins
May 15, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Marcondes C FrançaIscia Lopes-Cendes
May 15, 2010·The Cerebellum·Laura Bannach JardimVanessa Bielefeld Leotti Torman
Aug 13, 2011·Neurology·H JacobiT Klockgether
May 28, 2013·Lancet Neurology·Heike JacobiThomas Klockgether
Aug 15, 2013·The Cerebellum·Raphael Machado de CastilhosUNKNOWN Rede Neurogenetica
Jan 8, 2014·Developmental Medicine and Child Neurology·Rick BrandsmaUNKNOWN Childhood Ataxia and Cerebellar Group
Jan 9, 2014·Movement Disorders : Official Journal of the Movement Disorder Society·Jonas Alex Morales SauteLaura Bannach Jardim
Jun 29, 2014·Brain : a Journal of Neurology·Sophie Tezenas du MontcelGiovanni Stevanin
Aug 25, 2015·Journal of the Neurological Sciences·Jonas Alex Morales SauteLaura Bannach Jardim
Sep 18, 2015·Lancet Neurology·Heike JacobiThomas Klockgether
Citations
Jun 10, 2020·Movement Disorders : Official Journal of the Movement Disorder Society·Camila Callegari PiccininMarcondes Cavalcante França
Jul 10, 2020·Molecular Genetics & Genomic Medicine·Quan-Fu LiZhi-Ying Wu
Feb 23, 2020·The Cerebellum·Roberto Rodríguez-LabradaUNKNOWN PanAmerican Hereditary Ataxia Network
Apr 16, 2019·Genetics and Molecular Biology·Roberto GiuglianiFrancyne Kubaski
Oct 20, 2020·Frontiers in Neuroscience·Ikuo TomiokaKazuhiko Seki
Apr 25, 2021·Journal of Genetic Counseling·Álvaro MendesAngus J Clarke