F. Palau and C. Espinós, Autosomal recessive cerebellar ataxias, Orphanet Journal of Rare Diseases, vol.1, issue.1, p.47, 2006.
DOI : 10.1186/1750-1172-1-47

B. Fogel and S. Perlman, Clinical features and molecular genetics of autosomal recessive cerebellar ataxias, The Lancet Neurology, vol.6, issue.3, pp.245-57, 2007.
DOI : 10.1016/S1474-4422(07)70054-6

A. Harding, CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS, The Lancet, vol.321, issue.8334, pp.1151-1156, 1983.
DOI : 10.1016/S0140-6736(83)92879-9

E. Embiruçu, M. Martyn, D. Schlesinger, and F. Kok, Autosomal recessive ataxias: 20 types, and counting, Arquivos de Neuro-Psiquiatria, vol.67, issue.4, pp.1143-56, 2009.
DOI : 10.1590/S0004-282X2009000600036

S. Vermeer, B. Van-de-warrenburg, M. Willemsen, M. Cluitmans, H. Scheffer et al., Autosomal recessive cerebellar ataxias: the current state of affairs, Journal of Medical Genetics, vol.48, issue.10, pp.651-660, 2011.
DOI : 10.1136/jmedgenet-2011-100210

H. Chun and R. Gatti, Ataxia???telangiectasia, an evolving phenotype, DNA Repair, vol.3, issue.8-9, pp.8-91187, 2004.
DOI : 10.1016/j.dnarep.2004.04.010

L. Ball and X. W. , Molecular basis of ataxia telangiectasia and related diseases, Acta Pharmacologica Sinica, vol.154, issue.12, pp.897-907, 2005.
DOI : 10.1038/nature01385

B. Van-de-warrenburg, R. Sinke, and B. Kremer, Recent Advances in Hereditary Spinocerebellar Ataxias, Journal of Neuropathology & Experimental Neurology, vol.64, issue.3, pp.171-80, 2005.
DOI : 10.1093/jnen/64.3.171

M. Tazir, L. Ali-pacha, M. Zahem, A. Delaunoy, J. Fritsch et al., Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients, Journal of the Neurological Sciences, vol.278, issue.1-2, pp.77-81, 2009.
DOI : 10.1016/j.jns.2008.12.004

URL : https://hal.archives-ouvertes.fr/hal-00654742

N. Vasli, J. Böhm, L. Gras, S. Muller, J. Pizot et al., Next generation sequencing for molecular diagnosis of neuromuscular diseases, Acta Neuropathologica, vol.11, issue.2, pp.273-83, 2012.
DOI : 10.1007/s00401-012-0982-8

V. Campuzano, L. Montermini, M. Moltò, L. Pianese, M. Cossée et al., Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion, Science, vol.271, issue.5254, pp.1423-1430, 1996.
DOI : 10.1126/science.271.5254.1423

K. Ouahchi, M. Arita, H. Kayden, F. Hentati, B. Hamida et al., Ataxia with isolated vitamin E deficiency is caused by mutations in the ?????tocopherol transfer protein, Nature Genetics, vol.3, issue.2, pp.141-146, 1995.
DOI : 10.1038/362059a0

R. Micol, B. Slama, L. Suarez, F. , L. Mignot et al., Morbidity and mortality from ataxia-telangiectasia are associated with ATM genotype, Journal of Allergy and Clinical Immunology, vol.128, issue.2, pp.382-391, 2011.
DOI : 10.1016/j.jaci.2011.03.052

M. Pandolfo and A. Pastore, The pathogenesis of Friedreich ataxia and the structure and function of frataxin, Journal of Neurology, vol.277, issue.S1, pp.9-17, 2009.
DOI : 10.1007/s00415-009-1003-2

M. Anheim, C. Tranchant, and M. Koenig, The Autosomal Recessive Cerebellar Ataxias, New England Journal of Medicine, vol.366, issue.7, pp.636-682, 2012.
DOI : 10.1056/NEJMra1006610

URL : https://hal.archives-ouvertes.fr/hal-01405178

F. Palau and T. Sevilla, Genetics of peripheral neuropathies and hereditary ataxias, Neurologia, vol.10, issue.1, pp.32-43, 1995.

T. Klockgether, C. Zühlke, J. Schulz, K. Bürk, M. Fetter et al., Friedreich's ataxia with retained tendon reflexes: Molecular genetics, clinical neurophysiology, and magnetic resonance imaging, Neurology, vol.46, issue.1, pp.118-139, 1996.
DOI : 10.1212/WNL.46.1.118

A. Dürr, M. Cossee, Y. Agid, V. Campuzano, C. Mignard et al., Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia, New England Journal of Medicine, vol.335, issue.16, pp.1169-75, 1996.
DOI : 10.1056/NEJM199610173351601

DOI : 10.1093/brain/104.3.589

P. Ribaï, F. Pousset, M. Tanguy, S. Rivaud-pechoux, L. Ber et al., Neurological, Cardiological, and Oculomotor Progression in 104 Patients With Friedreich Ataxia During Long-term Follow-up, Archives of Neurology, vol.64, issue.4, pp.558-64, 2007.
DOI : 10.1001/archneur.64.4.558

L. Cavalier, K. Ouahchi, H. Kayden, D. Donato, S. Reutenauer et al., Ataxia with Isolated Vitamin E Deficiency: Heterogeneity of Mutations and Phenotypic Variability in a Large Number of Families, The American Journal of Human Genetics, vol.62, issue.2, pp.301-311, 1998.
DOI : 10.1086/301699

E. Euch-fayache, G. Bouhlal, Y. Amouri, R. Feki, M. Hentati et al., Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency, Brain, vol.137, issue.2, pp.402-412, 2014.
DOI : 10.1093/brain/awt339

A. Benomar, M. Yahyaoui, F. Meggouh, A. Bouhouche, M. Boutchich et al., Clinical comparison between AVED patients with 744 del A mutation and Friedreich ataxia with GAA expansion in 15 Moroccan families, Journal of the Neurological Sciences, vol.198, issue.1-2, pp.25-34, 2002.
DOI : 10.1016/S0022-510X(02)00057-6

C. Mariotti, C. Gellera, M. Rimoldi, R. Mineri, G. Uziel et al., Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPAgene in Italian families, Neurological Sciences, vol.25, issue.3, pp.130-137, 2004.
DOI : 10.1007/s10072-004-0246-z

T. Gotoda, M. Arita, H. Arai, K. Inoue, T. Yokota et al., Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the ??-Tocopherol???Transfer Protein, New England Journal of Medicine, vol.333, issue.20, pp.1313-1321, 1995.
DOI : 10.1056/NEJM199511163332003

T. Yokota, T. Shiojiri, and T. Gotoda, Friedreich-like ataxia with retinitis pigmentosa caused by the His101Gln mutation of the ?-Tocopherol transfer protein gene, Annals of Neurology, vol.57, issue.6
DOI : 10.1002/ana.410410621

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

H. Kayden, The neurologic syndrome of vitamin E deficiency: A significant cause of ataxia, Neurology, vol.43, issue.11, pp.2167-2176, 1993.
DOI : 10.1212/WNL.43.11.2167

S. Gabsi, N. Gouider-khouja, S. Belal, M. Fki, M. Kefi et al., Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency, European Journal of Neurology, vol.41, issue.5, pp.477-81, 2001.
DOI : 10.1016/S0960-8966(98)00051-0

K. Müller and S. Bekkelund, Epilepsy in a patient with ataxia caused by vitamin E deficiency, Case Reports, vol.2011, issue.apr27 1, 2011.
DOI : 10.1136/bcr.01.2011.3728

M. Moreira, S. Klur, M. Watanabe, A. Németh, L. Ber et al., Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2, Nature Genetics, vol.36, issue.3, pp.225-232, 2004.
DOI : 10.1038/ng1303

L. Ber, I. Bouslam, N. Rivaud-péchoux, S. Guimarães, J. Benomar et al., Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients, Brain, vol.127, issue.4, pp.759-67, 2004.
DOI : 10.1093/brain/awh080

A. Duquette, K. Roddier, J. Mcnabb-baltar, I. Gosselin, A. St-denis et al., Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy, Annals of Neurology, vol.74, issue.3, pp.408-422, 2005.
DOI : 10.1002/ana.20408

C. Criscuolo, L. Chessa, D. Giandomenico, S. Mancini, P. Saccà et al., Ataxia with oculomotor apraxia type 2: A clinical, pathologic, and genetic study, Neurology, vol.66, issue.8, pp.1207-1217, 2006.
DOI : 10.1212/01.wnl.0000208402.10512.4a

E. Euch-fayache, G. Lalani, I. Amouri, R. Turki, I. Ouahchi et al., Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia, Archives of Neurology, vol.60, issue.7, pp.982-990, 2003.
DOI : 10.1001/archneur.60.7.982

J. Bouchard, A. Richter, J. Mathieu, D. Brunet, T. Hudson et al., Autosomal recessive spastic ataxia of Charlevoix???Saguenay, Neuromuscular Disorders, vol.8, issue.7, pp.474-483, 1998.
DOI : 10.1016/S0960-8966(98)00055-8

J. Bouchard, A. Barbeau, R. Bouchard, and R. Bouchard, Autosomal recessive spastic ataxia of Charlevoix-Saguenay, Can J Neurol Sci, vol.5, issue.1, pp.61-70, 1978.

E. Vingolo, D. Fabio, R. Salvatore, S. Grieco, G. Bertini et al., Myelinated retinal fibers in autosomal recessive spastic ataxia of Charlevoix-Saguenay, European Journal of Neurology, vol.8, issue.9, pp.1187-90, 2011.
DOI : 10.1111/j.1468-1331.2010.03335.x

J. Baets, T. Deconinck, K. Smets, D. Goossens, P. Van-den-bergh et al., Mutations in SACS cause atypical and late-onset forms of ARSACS, Neurology, vol.75, issue.13, pp.1181-1189, 2010.
DOI : 10.1212/WNL.0b013e3181f4d86c

S. Vermeer, R. Meijer, B. Pijl, J. Timmermans, J. Cruysberg et al., ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia, neurogenetics, vol.62, issue.Pt 4, pp.207-221, 2008.
DOI : 10.1086/301699

C. Barbot, P. Coutinho, R. Chorão, C. Ferreira, J. Barros et al., Recessive Ataxia With Ocular Apraxia, Archives of Neurology, vol.58, issue.2, pp.201-206, 2001.
DOI : 10.1001/archneur.58.2.201

H. Date, O. Onodera, H. Tanaka, K. Iwabuchi, K. Uekawa et al., Earlyonset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene, Nature Genetics, vol.29, issue.2, pp.184-192, 2001.
DOI : 10.1038/ng1001-184

M. Moreira, C. Barbot, N. Tachi, N. Kozuka, E. Uchida et al., The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin, Nature Genetics, vol.29, issue.2, pp.189-93, 2001.
DOI : 10.1038/ng1001-189

L. Ber, I. Moreira, M. Rivaud-péchoux, S. Chamayou, C. Ochsner et al., Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies, Brain, vol.126, issue.12, pp.2761-672, 2003.
DOI : 10.1093/brain/awg283

R. Amouri, M. Moreira, M. Zouari, E. Euch, G. Barhoumi et al., Aprataxin gene mutations in Tunisian families, Neurology, vol.63, issue.5, pp.928-937, 2004.
DOI : 10.1212/01.WNL.0000137044.06573.46

B. Castellotti, C. Mariotti, M. Rimoldi, R. Fancellu, M. Plumari et al., Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients, neurogenetics, vol.20, issue.3, pp.193-201, 2011.
DOI : 10.1007/s10048-011-0281-x

C. Tranchant, M. Fleury, M. Moreira, M. Koenig, and J. Warter, Phenotypic variability of aprataxin gene mutations, Neurology, vol.60, issue.5, pp.868-70, 2003.
DOI : 10.1212/01.WNL.0000048562.88536.A4

C. Lagier-tourenne, M. Tazir, L. López, 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.661-72, 2008.
DOI : 10.1016/j.ajhg.2007.12.024

URL : https://hal.archives-ouvertes.fr/hal-00282563

R. Horvath, B. Czermin, S. Gulati, S. Demuth, G. Houge et al., 003???Adult-onset cerebellar ataxia due to mutations in the CABC1/ADCK3 gene, Journal of Neurology, Neurosurgery & Psychiatry, vol.83, issue.3, pp.174-182, 2012.
DOI : 10.1136/jnnp-2011-301993.45

C. Mignot, E. Apartis, A. Dürr, M. Lourenço, C. Charles et al., Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression, Orphanet Journal of Rare Diseases, vol.8, issue.1, p.173, 2013.
DOI : 10.1002/humu.22048

URL : https://hal.archives-ouvertes.fr/inserm-00907850

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

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.623-653, 2008.
DOI : 10.1016/j.ajhg.2007.12.022

URL : https://hal.archives-ouvertes.fr/hal-00264050

D. Chen, A. Naydenov, J. Blankman, H. Mefford, M. Davis et al., : Expansion of the Mutation Spectrum in PHARC and Assessment of Their Functional Effects, Human Mutation, vol.56, issue.Suppl 1, pp.1672-1680, 2013.
DOI : 10.1002/humu.22437

K. Nishiguchi, A. Avila-fernandez, R. Van-huet, M. Corton, R. Pérez-carro et al., Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations, Ophthalmology, vol.121, issue.8, pp.1620-1627, 2014.
DOI : 10.1016/j.ophtha.2014.02.008

T. Fiskerstrand, H. Brahim, D. Johansson, S. , M. 'zahem et al., Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism, The American Journal of Human Genetics, vol.87, issue.3, pp.410-417, 2010.
DOI : 10.1016/j.ajhg.2010.08.002

F. Gros-louis, N. Dupré, P. Dion, M. Fox, S. Laurent et al., Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia, Nature Genetics, vol.30, issue.1, pp.80-85, 2007.
DOI : 10.1038/ng1927

N. Dupré, F. Gros-louis, N. Chrestian, S. Verreault, D. Brunet et al., Clinical and genetic study of autosomal recessive cerebellar ataxia type 1, Annals of Neurology, vol.62, issue.1, pp.93-101, 2007.
DOI : 10.1002/ana.21143

A. Komiyama, I. Nonaka, and K. Hirayama, Muscle pathology in Marinesco-Sj??gren syndrome, Journal of the Neurological Sciences, vol.89, issue.1, pp.103-116, 1989.
DOI : 10.1016/0022-510X(89)90010-5

C. Lagier-tourenne, L. Tranebaerg, D. Chaigne, M. Gribaa, H. Dollfus et al., Homozygosity mapping of Marinesco???Sj??gren syndrome to 5q31, European Journal of Human Genetics, vol.11, issue.10, pp.770-778, 2003.
DOI : 10.1038/sj.ejhg.5201068

S. Farah, M. Sabry, A. Khuraibet, J. Anim, B. Quasrawi et al., Marinesco-Sj??gren syndrome in a Bedouin family, Acta Neurologica Scandinavica, vol.222, issue.6, pp.387-91, 1997.
DOI : 10.1111/j.1600-0404.1997.tb00303.x

A. Anttonen, I. Mahjneh, R. Hämäläinen, C. Lagier-tourenne, O. Kopra et al., The gene disrupted in Marinesco-Sj??gren syndrome encodes SIL1, an HSPA5 cochaperone, Nature Genetics, vol.37, issue.12, pp.1309-1320, 2005.
DOI : 10.1038/ng1677

P. Nicolaou, A. Georghiou, C. Votsi, L. Middleton, E. Zamba-papanicolaou et al., A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia, BMC Medical Genetics, vol.8, issue.1, p.28, 2008.
DOI : 10.1007/s10048-006-0067-8

H. Brahim, D. , M. 'zahem, A. Assoum, M. Bouhlal et al., Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays, Journal of Neurology, vol.13, issue.1, pp.56-67, 2011.
DOI : 10.1007/s00415-010-5682-5