A. L. Benton, N. R. Varney, and K. D. Hamsher, Visuospatial Judgment, Archives of Neurology, vol.35, issue.6, p.364, 1978.

E. Brusse, I. De-koning, A. Maat-kievit, B. A. Oostra, P. Heutink et al., Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype, Movement Disorders, vol.21, issue.3, pp.396-401, 2005.

E. Brusse, I. De-koning, A. Maat-kievit, B. A. Oostra, P. Heutink et al., Spinocerebellar ataxia associated with a mutation in the fibroblast growth factor 14 gene (SCA27): A new phenotype, Movement Disorders, vol.21, issue.3, pp.396-401, 2005.

E. De-renzi and P. Faglioni, Normative Data and Screening Power of a Shortened Version of the Token Test, Cortex, vol.14, issue.1, pp.41-49, 1978.

D. Devos, S. Schraen-maschke, I. Vuillaume, K. Dujardin, P. Naze et al., Clinical features and genetic analysis of a new form of spinocerebellar ataxia, Neurology, vol.56, issue.2, pp.234-238, 2001.

T. E. Dudding, K. Friend, P. W. Schofield, S. Lee, I. A. Wilkinson et al., Autosomal dominant congenital non-progressive ataxia overlaps with the SCA15 locus, Neurology, vol.63, issue.12, pp.2288-2292, 2004.

A. Durr, Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond, The Lancet Neurology, vol.9, issue.9, pp.885-894, 2010.

M. Gajecka, K. L. Mackay, and L. G. Shaffer, Monosomy 1p36 deletion syndrome, American Journal of Medical Genetics Part C: Seminars in Medical Genetics, vol.145C, issue.4, pp.346-356, 2007.

M. J. Hawrylycz, E. S. Lein, A. L. Guillozet-bongaarts, E. H. Shen, L. Ng et al., An anatomically comprehensive atlas of the comprehensive human brain transcriptome, Nature, vol.489, pp.391-99, 2012.

H. A. Heilstedt, B. C. Ballif, L. A. Howard, R. A. Lewis, S. Stal et al., Physical Map of 1p36, Placement of Breakpoints in Monosomy 1p36, and Clinical Characterization of the Syndrome, The American Journal of Human Genetics, vol.72, issue.5, pp.1200-1212, 2003.

A. Herman-bert, G. Stevanin, J. Netter, O. Rascol, D. Brassat et al., Mapping of Spinocerebellar Ataxia 13 to Chromosome 19q13.3-q13.4 in a Family with Autosomal Dominant Cerebellar Ataxia and Mental Retardation, The American Journal of Human Genetics, vol.67, issue.1, pp.229-235, 2000.

J. Hersheson, A. Haworth, and H. Houlden, The inherited ataxias: Genetic heterogeneity, mutation databases, and future directions in research and clinical diagnostics, Human Mutation, vol.33, issue.9, pp.1324-1332, 2012.

L. Huang, K. Szymanska, V. L. Jensen, A. R. Janecke, A. . Innes et al., TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone, The American Journal of Human Genetics, vol.89, issue.6, pp.713-730, 2011.

E. L. Huttlin, M. P. Jedrychowski, J. E. Elias, T. Goswami, R. Rad et al., A Tissue-Specific Atlas of Mouse Protein Phosphorylation and Expression, Cell, vol.143, issue.7, pp.1174-1189, 2010.

T. Klockgether, Update on degenerative ataxias, Current Opinion in Neurology, vol.24, issue.4, pp.339-345, 2011.

M. Korkman, U. Kirk, S. L. Kemp, and . Nepsy-ii, Administrative manual, 2007.

A. Matilla-dueñas, M. Corral-juan, V. Volpini, and I. Sanchez, The Spinocerebellar Ataxias: Clinical Aspects And Molecular Genetics, Advances in Experimental Medicine and Biology, vol.724, pp.351-374, 2012.

U. Rüb, L. Schöls, H. Paulson, G. Auburger, P. Kermer et al., Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7, Progress in Neurobiology, vol.104, pp.38-66, 2013.

T. Schmitz-hubsch, S. T. Du-montcel, L. Baliko, J. Berciano, S. Boesch et al., Scale for the assessment and rating of ataxia: Development of a new clinical scale, Neurology, vol.66, issue.11, pp.1717-1720, 2006.

F. Sievers, A. Wilm, D. Dineen, T. J. Gibson, K. Karplus et al., Fast, scalable generation of high?quality protein multiple sequence alignments using Clustal Omega, Molecular Systems Biology, vol.7, issue.1, p.539, 2011.

G. Stevanin, V. Hahn, E. Lohmann, N. Bouslam, M. Gouttard et al., Mutation in the Catalytic Domain of Protein Kinase C ? and Extension of the Phenotype Associated With Spinocerebellar Ataxia Type 14, Archives of Neurology, vol.61, issue.8, 2004.

G. Stevanin, V. Hahn, E. Lohmann, N. Bouslam, M. Gouttard et al., Mutation in the Catalytic Domain of Protein Kinase C ? and Extension of the Phenotype Associated With Spinocerebellar Ataxia Type 14, Archives of Neurology, vol.61, issue.8, pp.1242-1290, 2004.

J. C. Trinidad, D. T. Barkan, B. F. Gulledge, A. Thalhammer, A. Sali et al., Global Identification and Characterization of BothO-GlcNAcylation and Phosphorylation at the Murine Synapse, Molecular & Cellular Proteomics, vol.11, issue.8, pp.215-229, 2012.

I. Vuillaume, D. Devos, S. Schraen-maschke, C. Dina, A. Lemainque et al., A new locus for spinocerebellar ataxia (SCA21) maps to chromosome 7p21.3-p15.1, Annals of Neurology, vol.52, issue.5, pp.666-670, 2002.

D. Wechsler, Wechsler Intelligence Scale for Children, Fourth Edition, 2003.