T. Physiopathology, . Of-neurodegenerative-disorders, U. Inserm, C. , T. Molecular-bases et al., 11 Department of Movement Disorders and Neurology, 13 Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), INSERM-U964/CNRS-UMR7104. 15 Centre de Référence des malformations et maladies congénitales du cervelet, pp.75015-75035, 1046.

M. Anheim, C. Tranchant, and M. Koenig, The Autosomal Recessive Cerebellar Ataxias, New England Journal of Medicine, vol.366, issue.7, pp.636-646, 2012.
DOI : 10.1056/NEJMra1006610
URL : https://hal.archives-ouvertes.fr/hal-01405178

M. Gerards, B. Van-den-bosch, C. Calis, K. Schoonderwoerd, K. Van-engelen et al., Nonsense mutations in CABC1/ADCK3 cause progressive cerebellar ataxia and atrophy, Mitochondrion, vol.10, issue.5, pp.510-515, 2010.
DOI : 10.1016/j.mito.2010.05.008

C. Lagier-tourenne, M. Tazir, L. Lopez, C. Quinzii, M. Assoum et al., ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency, The American Journal of Human Genetics, vol.82, issue.3, pp.661-672, 2008.
DOI : 10.1016/j.ajhg.2007.12.024
URL : https://hal.archives-ouvertes.fr/hal-00282563

J. Mollet, A. Delahodde, V. Serre, D. Chretien, D. Schlemmer et al., CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures, The American Journal of Human Genetics, vol.82, issue.3, pp.623-630, 2008.
DOI : 10.1016/j.ajhg.2007.12.022
URL : https://hal.archives-ouvertes.fr/hal-00264050

A. Terracciano, F. Renaldo, G. Zanni, D. Amico, A. Pastore et al., The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children, European Journal of Paediatric Neurology, vol.16, issue.3, pp.248-256, 2012.
DOI : 10.1016/j.ejpn.2011.07.016

K. Auré, J. Benoist, O. Debaulny, H. Romero, N. Rigal et al., Progression despite replacement of a myopathic form of coenzyme Q10 defect, Neurology, vol.63, issue.4, pp.727-729, 2004.
DOI : 10.1212/01.WNL.0000134607.76780.B2

M. Anheim, M. Fleury, B. Monga, V. Laugel, D. Chaigne et al., Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management, neurogenetics, vol.5, issue.1, pp.1-12, 2010.
DOI : 10.1007/s10048-009-0196-y

M. Anheim, B. Monga, M. Fleury, P. Charles, C. Barbot et al., Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients, Brain, vol.132, issue.10, pp.2688-2698, 2009.
DOI : 10.1093/brain/awp211
URL : https://hal.archives-ouvertes.fr/inserm-00437772

T. Schmitz-hubsch, D. Montcel, S. Baliko, L. Berciano, J. 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.
DOI : 10.1212/01.wnl.0000219042.60538.92

C. Marelli, J. Figoni, P. Charles, M. Anheim, M. Tchikviladze et al., Annual change in Friedreich's ataxia evaluated by the Scale for the Assessment and Rating of Ataxia (SARA) is independent of disease severity, Movement Disorders, vol.131, issue.Suppl 1, pp.135-138, 2011.
DOI : 10.1002/mds.23879

M. Anheim, M. Fleury, J. Franques, M. Moreira, J. Delaunoy et al., Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families, Archives of Neurology, vol.65, issue.7, pp.958-962, 2008.
DOI : 10.1001/archneur.65.7.958
URL : https://hal.archives-ouvertes.fr/inserm-00357160

T. Dumontcel, S. Charles, P. Goizet, C. Marelli, C. Ribai et al., Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia, Arch Neurol, vol.69, pp.500-508, 2012.

F. Diomedi-camassei, D. Giandomenico, S. Santorelli, F. Caridi, G. Piemonte et al., COQ2 Nephropathy: A Newly Described Inherited Mitochondriopathy with Primary Renal Involvement, Journal of the American Society of Nephrology, vol.18, issue.10, pp.22773-2780, 2007.
DOI : 10.1681/ASN.2006080833

C. Tzoulis and L. Bindoff, Acute mitochondrial encephalopathy reflects neuronal energy failure irrespective of which genome the genetic defect affects, Brain, vol.135, issue.12, pp.3627-3634, 2012.
DOI : 10.1093/brain/aws223

D. Siqueira and L. , Progressive myoclonic epilepsies: review of clinical, molecular and therapeutic aspects, Journal of Neurology, vol.21, issue.suppl 5, pp.1612-1619, 2010.
DOI : 10.1007/s00415-010-5641-1

R. Kälviäinen, J. Khyuppenen, P. Koskenkorva, K. Eriksson, R. Vanninen et al., Clinical picture of EPM1-Unverricht-Lundborg disease, Epilepsia, vol.29, issue.1, pp.549-556, 2008.
DOI : 10.1016/j.nurt.2006.11.004

A. Hoischen, C. Gilissen, P. Arts, N. Wieskamp, W. Van-der-vliet et al., Massively parallel sequencing of ataxia genes after array-based enrichment, Human Mutation, vol.10, issue.LNBI, pp.494-499, 2010.
DOI : 10.1002/humu.21221

C. Ku, D. Cooper, C. Polychronakos, N. Naidoo, M. Wu et al., Exome sequencing: Dual role as a discovery and diagnostic tool, Annals of Neurology, vol.13, issue.suppl, pp.5-14, 2012.
DOI : 10.1002/ana.22647

R. Hennekam and L. Biesecker, Next-generation sequencing demands next-generation phenotyping, Human Mutation, vol.43, issue.5, pp.884-886, 2012.
DOI : 10.1002/humu.22048