The autosomal recessive cerebellar ataxias.

Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Campuzano, V., Montermini, L., Moltò, M. D., Pianese, L., Cossée, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996) · Science · doi:10.1126/science.271.5254.1423 · Cited by 2,786

A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

Savitsky, K., Bar-Shira, A., Gilad, S., Rotman, G., Ziv, Y., Vanagaite, L., Tagle, D. A., Smith, S., Uziel, T., Sfez, S., et al. (1995) · Science · doi:10.1126/science.7792600 · Cited by 2,785

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia

Dürr, A., Cossee, M., Agid, Y., Campuzano, V., Mignard, C., Penet, C., Mandel, J.-L., Brice, A., & Koenig, M. (1996) · New England Journal of Medicine · doi:10.1056/nejm199610173351601 · Cited by 1,071

The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder

Stewart, G. S., Maser, R. S., Stankovic, T., Bressan, D. A., Kaplan, M. I., Jaspers, N. G. J., Raams, A., Byrd, P. J., Petrini, J. H. J., & Taylor, A. M. R. (1999) · Cell · doi:10.1016/s0092-8674(00)81547-0 · Cited by 1,060

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis.

Schöls, L., Bauer, P., Schmidt, T., Schulte, T., & Riess, O. (2004) · Lancet Neurology · doi:10.1016/s1474-4422(04)00737-9 · Cited by 1,007

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

Harding, A. E. (1983) · The Lancet · doi:10.1016/s0140-6736(83)92879-9 · Cited by 987

Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia

Swift, M., Morrell, D., Massey, R. B., & Chase, C. L. (1991) · New England Journal of Medicine · doi:10.1056/nejm199112263252602 · Cited by 934

Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

Dürr, A. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70183-6 · Cited by 658

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Takashima, H., Boerkoel, C. F., John, J., Saifi, G. M., Salih, M. A. M., Armstrong, D., Mao, Y., Quiocho, F. A., Roa, B. B., Nakagawa, M., et al. (2002) · Nature Genetics · doi:10.1038/ng987 · Cited by 522

The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Moreira, M.-C., Barbot, C., Tachi, N., Kozuka, N., Uchida, E., Gibson, T. J., Mendonça, P., Costa, M. M. R., Barros, J., Yanagisawa, T., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-189 · Cited by 434

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

Engert, J. C., Bérubé, P., Mercier, J., Doré, C., Lepage, P., Ge, B., Bouchard, J.-P., Mathieu, J., Melançon, S. B., Schalling, M., et al. (2000) · Nature Genetics · doi:10.1038/72769 · Cited by 434

Ataxia–telangiectasia, an evolving phenotype

Chun, H. H., & Gatti, R. A. (2004) · DNA repair · doi:10.1016/j.dnarep.2004.04.010 · Cited by 426

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

Sharp, D., Blinderman, L., Combs, K. A., Kienzle, B., Ricci, B., Wager-Smith, K., Gil, C. M., Turck, C. W., Boumas, M.-E., Rader, D. J., et al. (1993) · Nature · doi:10.1038/365065a0 · Cited by 393

The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

Tzoulis, C. (2006) · Brain · doi:10.1093/brain/awl097 · Cited by 352

Effect of idebenone on cardiomyopathy in Friedreich's ataxia: a preliminary study

Rustin, P., von Kleist-Retzow, J., Chantrel-Groussard, K., Sidi, D., Münnich, A., & Rötig, A. (1999) · The Lancet · doi:10.1016/s0140-6736(99)01341-0 · Cited by 348

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia

Gros‐Louis, F., Dupré, N., Dion, P. A., Fox, M. A., Laurent, S. B., Verreault, S., Sanes, J. R., Bouchard, J.-P., & Rouleau, G. A. (2006) · Nature Genetics · doi:10.1038/ng1927 · Cited by 347

Evolution of the Friedreich’s ataxia trinucleotide repeat expansion: Founder effect and premutations

Cossée, M., Schmitt, M., Campuzano, V., Reutenauer, L., Moutou, C., Mandel, J., & Koenig, M. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.14.7452 · Cited by 330

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

Lagier‐Tourenne, C., Tazir, M., López, L. C., Quinzii, C. M., Assoum, M., Drouot, N., Busso, C., Makri, S., Alipacha, L., Benhassine, T., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.024 · Cited by 323

Neurological effects of high-dose idebenone in patients with Friedreich's ataxia: a randomised, placebo-controlled trial

Prospero, N. A. D., Baker, A., Jeffries, N. O., & Fischbeck, K. H. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70220-x · Cited by 300

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

Fogel, B. L., & Perlman, S. (2007) · The Lancet Neurology · doi:10.1016/s1474-4422(07)70054-6 · Cited by 299

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

Mollet, J., Delahodde, A., Serre, V., Chrétien, D., Schlemmer, D., Lombès, A., Boddaert, N., Desguerre, I., de Lonlay, P., de Baulny, H. O., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2007.12.022 · Cited by 295

Phenotypic variability in friedreich ataxia: Role of the associated GAA triplet repeat expansion

Montermini, L., Richeter, A., Morgan, K. W., Justice, C. M., Julien, D., Castellotti, B., Mercier, J., Poirier, J., Capozzoli, F., Bouchard, J., et al. (1997) · Annals of Neurology · doi:10.1002/ana.410410518 · Cited by 273

Diagnosis and treatment of Friedreich ataxia: a European perspective

Schulz, J. B., Boesch, S., Bürk, K., Dürr, A., Giunti, P., Mariotti, C., Pousset, F., Schöls, L. J., Vankan, P., & Pandolfo, M. (2009) · Nature Reviews Neurology · doi:10.1038/nrneurol.2009.26 · Cited by 263

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients

Anheim, M., Monga, B., Fleury, M., Charles, P., Barbot, C., Salih, M. A. M., Delaunoy, J., Fritsch, M., Arning, L., Synofzik, M., et al. (2009) · Brain · doi:10.1093/brain/awp211 · Cited by 249

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies

Ber, I. L. (2003) · Brain · doi:10.1093/brain/awg283 · Cited by 243

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

Fiskerstrand, T., Hmida, D., Johansson, S., Abderrahim, M., Haukanes, B. I., Drouot, N., Zimmermann, J., Cole, A. J., Vedeler, C. A., Bredrup, C., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.08.002 · Cited by 238

Idebenone treatment in Friedreich patients: One-year-long randomized placebo-controlled trial

Mariotti, C., Solari, A., Torta, D., Marano, L., Fiorentini, C., & Donato, S. D. (2003) · Neurology · doi:10.1212/01.wnl.0000055872.50364.fc · Cited by 235

Mammalian Frataxin: An Essential Function for Cellular Viability through an Interaction with a Preformed ISCU/NFS1/ISD11 Iron-Sulfur Assembly Complex

Schmucker, S., Martelli, A., Colin, F., Page, A., Wattenhofer‐Donzé, M., Reutenauer, L., & Puccio, H. M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0016199 · Cited by 234

A Phase 3, Double-blind, Placebo-Controlled Trial of Idebenone in Friedreich Ataxia

Lynch, D. R., Perlman, S., & Meier, T. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.168 · Cited by 225

Friedreich ataxia: the oxidative stress paradox

Seznec, H., Simon, D., Bouton, C., Reutenauer, L., Hertzog, A., Golik, P., Procaccio, V., Patel, M., Drapier, J.-C., Koenig, M., et al. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi042 · Cited by 219

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

Anheim, M., Fleury, M., Monga, B., Laugel, V., Chaigne, D., Rodier, G., Ginglinger, E., Boulay, C., Courtois, S., Drouot, N., et al. (2009) · Neurogenetics · doi:10.1007/s10048-009-0196-y · Cited by 189

Clinical spectrum of ataxia-telangiectasia in adulthood

Verhagen, M. M. M., Abdo, W. F., Willemsen, M. A. A. P., Hogervorst, F. B. L., Smeets, D., Hiel, J. A. P., Brunt, E. R. P., van Rijn, M. A., Krakauer, D. M., Oldenburg, R. A., et al. (2009) · Neurology · doi:10.1212/wnl.0b013e3181af33bd · Cited by 175

Friedreich's ataxia. Revision of the phenotype according to molecular genetics

Schöls, L. J. (1997) · Brain · doi:10.1093/brain/120.12.2131 · Cited by 173

Mortality Rates among Carriers of Ataxia-Telangiectasia Mutant Alleles

Su, Y. Y., & Swift, M. (2000) · Annals of Internal Medicine · doi:10.7326/0003-4819-133-10-200011210-00009 · Cited by 165

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Vermeer, S., Meijer, R. P. P., Pijl, B. J., Timmermans, J., Cruysberg, J. R. M., Bos, M. M., Schelhaas, H. J., van de Warrenburg, B. P. C., Knoers, N. V. A. M., Scheffer, H., et al. (2008) · Neurogenetics · doi:10.1007/s10048-008-0131-7 · Cited by 150

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

Vermeer, S., Hoischen, A., Meijer, R. P. P., Gilissen, C., Neveling, K., Wieskamp, N., de Brouwer, A. P. M., Koenig, M., Anheim, M., Assoum, M., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.10.015 · Cited by 147

Alpha fetoprotein is increasing with age in ataxia–telangiectasia

Stray‐Pedersen, A., Børresen‐Dale, A., Paus, E., Lindman, C., Bürgers, T., & Abrahamsen, T. G. (2007) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2007.04.001 · Cited by 113

Phytanoyl–Coenzyme a Hydroxylase Deficiency — The Enzyme Defect in Refsum's Disease

Jansen, G. A., Wanders, R. J. A., Watkins, P. A., & Mihalik, S. J. (1997) · New England Journal of Medicine · doi:10.1056/nejm199707103370215 · Cited by 105

EFFECT OF LARGE ORAL DOSES OF VITAMIN E ON THE NEUROLOGICAL SEQUELAE OF PATIENTS WITH ABETALIPOPROTEINEMIA

Muller, D. P. R., & Lloyd, J. K. (1982) · Annals of the New York Academy of Sciences · doi:10.1111/j.1749-6632.1982.tb31239.x · Cited by 94

Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

Dupré, N., Gros‐Louis, F., Chrestian, N., Verreault, S., Brunet, D., de Verteuil, D. A., Brais, B., Bouchard, J., & Rouleau, G. A. (2007) · Annals of Neurology · doi:10.1002/ana.21143 · Cited by 92

Correlation Between Left Ventricular Hypertrophy and GAA Trinucleotide Repeat Length in Friedreich's Ataxia

Isnard, R., Kalotka, H., Dürr, A., Cossée, M., Schmitt, M., Pousset, F., Thomas, D., Brice, A., Koenig, M., & Michel Komajda, N. (1997) · Circulation · doi:10.1161/01.cir.95.9.2247 · Cited by 91

Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord.

Mascalchi, M., Salvi, F., Piacentini, S., & Bartolozzi, C. (1994) · American Journal of Roentgenology · doi:10.2214/ajr.163.1.8010211 · Cited by 91

Progression despite replacement of a myopathic form of coenzyme Q 10 defect

Auré, K., Benoist, J., de Baulny, H. O., Romero, N. B., Rigal, O., & Lombès, A. (2004) · Neurology · doi:10.1212/01.wnl.0000134607.76780.b2 · Cited by 83

Phenotypic variability of aprataxin gene mutations

Tranchant, C., Fleury, M., Moreira, M.-C., Koenig, M., & Warter, J. (2003) · Neurology · doi:10.1212/01.wnl.0000048562.88536.a4 · Cited by 79

Ataxia with oculomotor apraxia type 2: A clinical and genetic study of 19 patients

Tazir, M., Alipacha, L., Abderrahim, M., Delaunoy, J., Fritsch, M., Nouioua, S., Benhassine, T., Assami, S., Grid, D., Vallat, J., et al. (2009) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2008.12.004 · Cited by 64

Refsum’s Disease: Management by Diet and Plasmapheresis

Jp, H., Meier, C. F., Rousselle, L., Quadri, P., & Bogousslavsky, J. (2008) · European Neurology · doi:10.1159/000115788 · Cited by 63

Fixation instability and oculomotor abnormalities in Friedreich's ataxia

Spicker, S., Schulz, J. B., Petersen, D., Fetter, M., Klockgether, T., & DICHGANS, J. (1995) · Journal of Neurology · doi:10.1007/bf00867423 · Cited by 61

Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia

Assoum, M., Salih, M. A. M., Drouot, N., Hmida, D., Lagier‐Tourenne, C., AlDrees, A., Elmalik, S. A., Ahmed, T. S., Seidahmed, M. Z., Kabiraj, M. M., et al. (2010) · Brain · doi:10.1093/brain/awq181 · Cited by 56

A treatable familial neuromyopathy with vitamin E deficiency, normal absorption, and evidence of increased consumption of vitamin E

Kohlschütter, A., Hübner, C., Jansen, W., & Lindner, S. G. (1988) · Journal of Inherited Metabolic Disease · doi:10.1007/bf01804221 · Cited by 48

Clinical and Molecular Findings of Ataxia With Oculomotor Apraxia Type 2 in 4 Families

Anheim, M., Fleury, M., Franques, J., Moreira, M.-C., Delaunoy, J., Stoppa‐Lyonnet, D., Koenig, M., & Tranchant, C. (2008) · Archives of Neurology · doi:10.1001/archneur.65.7.958 · Cited by 47

Familial isolated vitamin E deficiency. Extensive study of a large family with a 5‐year therapeutic follow‐up

Amiel, J., Mazière, J., Beucler, I., Koenig, M., Reutenauer, L., Loux, N., Bonnefont‐Rousselot, D., Féo, C., & Landrieu, P. (1994) · Journal of Inherited Metabolic Disease · doi:10.1007/bf00710425 · Cited by 37

Very late‐onset Friedreich's ataxia with minimal GAA1 expansion mimicking multiple system atrophy of cerebellar type

Berciano, J., Infante, J., García, A., Polo, J. M., Volpini, V., & Combarros, O. (2005) · Movement Disorders · doi:10.1002/mds.20644 · Cited by 32

Ataxie spastique autosomique récessive de Charlevoix-Saguenay : étude d’une famille et revue de la littérature

Anheim, M., Chaigne, D., Fleury, M., Santorelli, F. M., Seze, J. D., Dürr, A., Brice, A., Koenig, M., & Tranchant, C. (2008) · Revue Neurologique · doi:10.1016/j.neurol.2008.02.001 · Cited by 22

Ataxia telangiectasia: a review

Rothblum‐Oviatt, C., Wright, J., Lefton‐Greif, M. A., McGrath‐Morrow, S. A., Crawford, T. O., & Lederman, H. M. (2016) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-016-0543-7 · Cited by 692

Mechanisms of ATM Activation

Paull, T. T. (2015) · Annual Review of Biochemistry · doi:10.1146/annurev-biochem-060614-034335 · Cited by 492

Genetics of dementia

Loy, C. T., Schofield, P. R., Turner, A. M., & Kwok, J. B. (2014) · The Lancet · doi:10.1016/s0140-6736(13)60630-3 · Cited by 342

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Schüle, R., Wiethoff, S., Martus, P., Karle, K. N., Otto, S., Klebe, S., Klimpe, S., Gallenmüller, C., Kurzwelly, D., Henkel, D., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24611 · Cited by 315

Exome sequence analysis suggests genetic burden contributes to phenotypic variability and complex neuropathy

Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L., Francescatto, L., Ozes, B., Karaca, E., Jhangiani, S., Bainbridge, M., et al. (2015) · Cell Reports · doi:10.1016/j.celrep.2015.07.023 · Cited by 249

Ataxias

Shakkottai, V. G. (2017) · Oxford University Press eBooks · doi:10.1093/med/9780199937837.003.0014

Adult-onset autosomal recessive cerebellar ataxia

INSERM (2020) · Definitions · doi:10.32388/ljdg4v

Autosomal recessive cerebellar ataxia with late-onset spasticity

INSERM (2020) · Definitions · doi:10.32388/muqm4f

A new locus for a childhood onset, slowly progressive autosomal recessive spinocerebellar ataxia maps to chromosome 11p15

Breedveld, G. J., van Wetten, B., Raa, G. D. T., Brusse, E., Swieten, J. C. V., Oostra, B. A., & Maat-Kievit, J. A. (2004) · Journal of Medical Genetics · doi:10.1136/jmg.2004.019232 · Cited by 37

Genetics of recessive ataxia

Mhiri, C. (2015) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2015.09.262 · Cited by 1