Casey HL, Gomez CM. Spinocerebellar Ataxia Type 6. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(®). University of Washington, Seattle; 1993.

Wiethoff S, O’Connor E, Haridy NA, Nethisinghe S, Wood N, Giunti P, Bettencourt C, Houlden H. Sequencing analysis of the SCA6 CAG expansion excludes an influence of repeat interruptions on disease onset. J Neurol Neurosurg Psychiatry. 2018;89:1226–7. https://doi.org/10.1136/jnnp-2017-317253.

Article  PubMed  Google Scholar 

Globas C, du Montcel ST, Baliko L, Boesch S, Depondt C, DiDonato S, Durr A, Filla A, Klockgether T, Mariotti C, Melegh B, Rakowicz M, Ribai P, Rola R, Schmitz-Hubsch T, Szymanski S, Timmann D, Van de Warrenburg BP, Bauer P, Schols L. Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. Mov Disord. 2008;23:2232–8. https://doi.org/10.1002/mds.22288.

Article  PubMed  Google Scholar 

Kato T, Tanaka F, Yamamoto M, Yosida E, Indo T, Watanabe H, Yoshiwara T, Doyu M, Sobue G. Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes. Clin Genet. 2000;58:69–73. https://doi.org/10.1034/j.1399-0004.2000.580112.x.

Article  CAS  PubMed  Google Scholar 

Sheiham A. Closing the gap in a generation: Health equity through action on the social determinants of health. A report of the WHO Commission on Social Determinants of Health (CSDH) 2008. Community Dent Health. 2009;26:2–3. https://doi.org/10.1922/CDH_2500Sheiham02.

Schmahmann JD, Pierce S, MacMore J, L’Italien GJ. Development and validation of a patient-reported outcome measure of ataxia. Mov Disord. 2021;36:2367–77. https://doi.org/10.1002/mds.28670.

Article  PubMed  Google Scholar 

López-Sendón JL, Royuela A, Trigo P, Orth M, Lange H, Reilmann R, Keylock J, Rickards H, Piacentini S, Squitieri F, Landwehrmeyer B, Witjes-Ane M-N, Jurgens CK, Roos RAC, Abraira V, de Yébenes JG, Network atEH. What is the impact of education on Huntington’s disease? Mov Disord. 2011;26:1489–95. https://doi.org/10.1002/mds.23385.

Tibshirani R. Regression shrinkage and selection via the lasso. J Roy Stat Soc: Ser B (Methodol). 1996;58:267–88. https://doi.org/10.1111/j.2517-6161.1996.tb02080.x.

Article  Google Scholar 

Friedman J, Hastie T, Tibshirani R. Regularization paths for generalized linear models via coordinate descent. J Stat Softw. 2010;33:1–22.

Article  PubMed  PubMed Central  Google Scholar 

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014;137:2444–55. https://doi.org/10.1093/brain/awu174.

Tezenas du Montcel S, Durr A, Rakowicz M, Nanetti L, Charles P, Sulek A, Mariotti C, Rola R, Schols L, Bauer P, Dufaure-Garé I, Jacobi H, Forlani S, Schmitz-Hübsch T, Filla A, Timmann D, van de Warrenburg BP, Marelli C, Kang JS, Giunti P, Cook A, Baliko L, Melegh B, Boesch S, Szymanski S, Berciano J, Infante J, Buerk K, Masciullo M, Di Fabio R, Depondt C, Ratka S, Stevanin G, Klockgether T, Brice A, Golmard JL. Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6. J Med Genet. 2014;51:479–86. https://doi.org/10.1136/jmedgenet-2013-102200.

Matsuyama Z, Kawakami H, Maruyama H, Izumi Y, Komure O, Udaka F, Kameyama M, Nishio T, Kuroda Y, Nishimura M, Nakamura S. Molecular features of the CAG repeats of spinocerebellar ataxia 6 (SCA6). Hum Mol Genet. 1997;6:1283–7. https://doi.org/10.1093/hmg/6.8.1283.

Article  CAS  PubMed  Google Scholar 

Koning IV, Tielemans MJ, Hoebeek FE, Ecury-Goossen GM, Reiss IKM, Steegers-Theunissen RPM, Dudink J. Impacts on prenatal development of the human cerebellum: a systematic review. J Matern Fetal Neonatal Med. 2017;30:2461–8. https://doi.org/10.1080/14767058.2016.1253060.

Article  PubMed  Google Scholar 

Falk L, Nordberg A, Seiger A, Kjaeldgaard A, Hellström-Lindahl E. Smoking during early pregnancy affects the expression pattern of both nicotinic and muscarinic acetylcholine receptors in human first trimester brainstem and cerebellum. Neuroscience. 2005;132:389–97. https://doi.org/10.1016/j.neuroscience.2004.12.049.

Article  CAS  PubMed  Google Scholar 

Ilg W, Synofzik M, Brötz D, Burkard S, Giese MA, Schöls L. Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology. 2009;73:1823–30. https://doi.org/10.1212/WNL.0b013e3181c33adf.

Article  CAS  PubMed  Google Scholar 

Cassoudesalle H, Petit A, Chanraud S, Petit H, Badaut J, Sibon I, Dehail P. Changes in resting-state functional brain connectivity associated with head impacts over one men’s semi-professional soccer season. J Neurosci Res. 2021;99:446–54. https://doi.org/10.1002/jnr.24742.

Article  CAS  PubMed  Google Scholar 

Iannuzzelli K, Shi R, Carter R, Huynh R, Morgan O, Kuo S-H, Bang J, Mills KA, Baranano K, Zee DS, Moukheiber E, Roda R, Butala A, Marvel C, Joyce M, Li X, Wang J, Rosenthal LS. The association between educational attainment and SCA 3 age of onset and disease course. Parkinsonism Relat Disord. 2022;98:99–102. https://doi.org/10.1016/j.parkreldis.2022.02.025.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Mackenbach JP, Kunst AE. Measuring the magnitude of socio-economic inequalities in health: an overview of available measures illustrated with two examples from Europe. Soc Sci Med. 1997;44:757–71. https://doi.org/10.1016/s0277-9536(96)00073-1.

Article  CAS  PubMed  Google Scholar 

White VB, Leib JR, Farmer JM, Biesecker BB. Exploration of transitional life events in individuals with Friedreich ataxia: implications for genetic counseling. Behav Brain Funct. 2010;6:65. https://doi.org/10.1186/1744-9081-6-65.

Article  PubMed  PubMed Central  Google Scholar 

You H, Cai Q, Ouyang Z, Li X, Wu C. Patient-reported outcome measure of ataxia correlates with canonical clinical assessments in Chinese spinocerebellar ataxias. Cerebellum. 2023. https://doi.org/10.1007/s12311-023-01630-5.

Article  PubMed  Google Scholar 

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Kang JS, Pandolfo M, Schulz JB, Molho S, Diallo A, Klockgether T. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol. 2015;14:1101–8. https://doi.org/10.1016/s1474-4422(15)00202-1.

Article  PubMed  Google Scholar