The autosomal recessive cerebellar ataxias.

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

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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

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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

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

PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum

Synofzik, M., Gonzalez, M., Lourenço, C. M., Coutelier, M., Haack, T. B., Rebelo, A. P., Hannequin, D., Strom, T. M., Prokisch, H., Kernstock, C., et al. (2013) · Brain · doi:10.1093/brain/awt326 · Cited by 227

Health risks for ataxia‐telangiectasia mutated heterozygotes: a systematic review, meta‐analysis and evidence‐based guideline

van Os, N. J. H., Roeleveld, N., Weemaes, C. M. R., Jongmans, M. C. J., Janssens, G. O. R. J., Taylor, A. M. R., Hoogerbrugge, N., & Willemsen, M. A. A. P. (2015) · Clinical Genetics · doi:10.1111/cge.12710 · Cited by 190

Clinical and genetic heterogeneity in hereditary spastic paraplegias: From SPG1 to SPG72 and still counting

Klebe, S., Stévanin, G., & Depienne, C. (2015) · Revue Neurologique · doi:10.1016/j.neurol.2015.02.017 · Cited by 179

FXTAS

Apartis, E., Blancher, A., Meissner, W. G., Guyant‐Maréchal, L., Maltête, D., de Broucker, T., Legrand, A. P., Bouzenada, H., Tran-Thanh, H., Sallansonnet-Froment, M., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e318271f7ff · Cited by 178

T-cell aging in rheumatoid arthritis

Weyand, C. M., Yang, Z., & Goronzy, J. J. (2014) · Current Opinion in Rheumatology · doi:10.1097/bor.0000000000000011 · Cited by 164

Recommendations for the detection and diagnosis of Niemann-Pick disease type C

Patterson, M. C., Clayton, P. T., Gissen, P., Anheim, M., Bauer, P., Bonnot, O., Dardis, A., Dionisi‐Vici, C., Klünemann, H.-H., Latour, P., et al. (2017) · Neurology Clinical Practice · doi:10.1212/cpj.0000000000000399 · Cited by 163

Niemann-Pick disease type C symptomatology: an expert-based clinical description

Mengel, E., Klünemann, H.-H., Lourenço, C. M., Hendriksz, C. J., Sedel, F., Walterfang, M., & Kolb, S. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-166 · Cited by 157

Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics

Doherty, D., Millen, K. J., & Barkovich, A. J. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70024-3 · Cited by 140

The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation

Mallaret, M., Synofzik, M., Lee, J., Sagum, C. A., Mahajnah, M. M., Sharkia, R. A., Drouot, N., Renaud, M., Klein, F. A. C., Anheim, M., et al. (2013) · Brain · doi:10.1093/brain/awt338 · Cited by 128

Cerebellar control of gait and interlimb coordination

Veloz, M. F. V., Zhou, K., Bosman, L. W. J., Potters, J.-W., Negrello, M., Seepers, R. M., Strydis, C., Koekkoek, S. K. E., & Zeeuw, C. I. D. (2014) · Brain Structure and Function · doi:10.1007/s00429-014-0870-1 · Cited by 128

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

Coutelier, M., Hammer, M. B., Stévanin, G., Monin, M., Davoine, C.-S., Mochel, F., Labauge, P. M., Ewenczyk, C., Ding, J., Gibbs, J. R., et al. (2018) · JAMA Neurology · doi:10.1001/jamaneurol.2017.5121 · Cited by 119

Brain Changes Associated with Postural Training in Patients with Cerebellar Degeneration: A Voxel-Based Morphometry Study

Burciu, R. G., Fritsche, N., Granert, O., Schmitz, L., Spönemann, N., Konczak, J., Theysohn, N., Gerwig, M., van Eimeren, T., & Timmann, D. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.3381-12.2013 · Cited by 119

Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames

Synofzik, M., & Ilg, W. (2014) · BioMed Research International · doi:10.1155/2014/583507 · Cited by 116

Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies

Synofzik, M., Puccio, H. M., Mochel, F., & Schöls, L. J. (2019) · Neuron · doi:10.1016/j.neuron.2019.01.049 · Cited by 114

It's not just the basal ganglia: Cerebellum as a target for dystonia therapeutics

Tewari, A., Fremont, R., & Khodakhah, K. (2017) · Movement Disorders · doi:10.1002/mds.27123 · Cited by 108

Identification of CHIP as a Novel Causative Gene for Autosomal Recessive Cerebellar Ataxia

Shi, Y., Wang, J., Li, J., Ren, H., Guan, W., He, M., Yan, W., Zhou, Y., Hu, Z., Zhang, J., et al. (2013) · PLoS ONE · doi:10.1371/journal.pone.0081884 · Cited by 102

Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans

Hills, L. B., Masri, A. T., Konno, K., Kakegawa, W., Lam, A.-T. N., Lim-Melia, E. R., Chandy, N., Hill, R. S., Partlow, J. N., Al‐Saffar, M., et al. (2013) · Neurology · doi:10.1212/wnl.0b013e3182a841a3 · Cited by 101

EFNS / ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

van de Warrenburg, B. P. C., van Gaalen, J., Boesch, S., Burgunder, J., Dürr, A., Giunti, P., Klockgether, T., Mariotti, C., Pandolfo, M., & Rieß, O. (2014) · European Journal of Neurology · doi:10.1111/ene.12341 · Cited by 100

Dystonia

Balint, B., & Bhatia, K. P. (2014) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000114 · Cited by 99

Recessive ataxias

Synofzik, M., & Nemeth, A. H. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-64189-2.00005-6 · Cited by 96

The genetic nomenclature of recessive cerebellar ataxias

Rossi, M., Anheim, M., Dürr, A., Klein, C., Koenig, M., Synofzik, M., Marras, C., van de Warrenburg, B. P. C., & on behalf of the International Parkinson and Movement Disorder Society Task Force on Classification and Nomenclature of Genetic Movement Disorders (2018) · Movement Disorders · doi:10.1002/mds.27415 · Cited by 99

Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

Elsaid, M. F., Chalhoub, N., Ben‐Omran, T., Kumar, P., Kamel, H., Ibrahim, K. O., Mohamoud, Y. A., Al‐Dous, E., Al-Azwani, I. K., Malek, J. A., et al. (2016) · Annals of Neurology · doi:10.1002/ana.24826 · Cited by 93

Motor neuron pathology in CANVAS due to RFC1 expansions

Huin, V., Coarelli, G., Guémy, C., Boluda, S., Debs, R., Mochel, F., Stojkovic, T., Grabli, D., Maisonobe, T., Gaymard, B. M., et al. (2021) · Brain · doi:10.1093/brain/awab449 · Cited by 97

UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

Duan, R., Shi, Y., Yu, L. F., Zhang, G., Li, J., Lin, Y., Guo, J., Wang, J., Shen, L. H., Jiang, H. F., et al. (2016) · PLoS ONE · doi:10.1371/journal.pone.0149039 · Cited by 91

A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders

Ngo, K. J., Rexach, J. E., Lee, H., Petty, L. E., Perlman, S., Valera, J. M., Deignan, J. L., Mao, Y., Aker, M., Posey, J. E., et al. (2019) · Human Mutation · doi:10.1002/humu.23946 · Cited by 90

Alpha-fetoprotein, a fascinating protein and biomarker in neurology

Schieving, J., Vries, M. D., van Vugt, J. M. G., Weemaes, C. M. R., van Deuren, M., Nicolai, J., Wevers, R. A., & Willemsen, M. A. A. P. (2013) · European Journal of Paediatric Neurology · doi:10.1016/j.ejpn.2013.09.003 · Cited by 86

ANO10 mutations cause ataxia and coenzyme Q10 deficiency

Balreira, A., Boczonadi, V., Barca, E., Pyle, A., Bánsági, B., Appleton, M., Graham, C., Hargreaves, I. P., Rašić, V. M., Lochmüller, H., et al. (2014) · Journal of Neurology · doi:10.1007/s00415-014-7476-7 · Cited by 83

The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

Méneret, A., Beaugendre, Y., Rieunier, G., Mahlaoui, N., Gaymard, B. M., Apartis, E., Tranchant, C., Rivaud-Péchoux, S., Degos, B., Benyahia, B., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000794 · Cited by 82

The inherited cerebellar ataxias: an update

Coarelli, G., Wirth, T., Tranchant, C., Koenig, M., Dürr, A., & Anheim, M. (2022) · Journal of Neurology · doi:10.1007/s00415-022-11383-6 · Cited by 84

Primary and secondary ataxias

Teive, H. A. G., & Ashizawa, T. (2015) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000227 · Cited by 77

Control of SUMO and Ubiquitin by ROS: Signaling and disease implications

Stankovic‐Valentin, N., & Melchior, F. (2018) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2018.07.002 · Cited by 79

Phenotypic variability in ARCA2 and identification of a core ataxic phenotype with slow progression

Mignot, C., Apartis, E., Dürr, A., Lourenço, C. M., Charles, P., Devos, D., Moreau, C., de Lonlay, P., Drouot, N., Bürglen, L., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-173 · Cited by 79

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective

Cau, P., Navarro, C. L., Harhouri, K., Roll, P., Sigaudy, S., Kaspi, É., Perrin, S., Sandre‐Giovannoli, A. D., & Lévy, N. (2014) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2014.03.021 · Cited by 80

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of C harlevoix– S aguenay

Pilliod, J., Moutton, S., Lavie, J., Maurat, É., Hubert, C., Bellancé, N., Anheim, M., Forlani, S., Mochel, F., Nguyen, K., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24509 · Cited by 75

A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy

Ütine, G. E., Haliloğlu, G., Salancı, B. V., Çetinkaya, A., Şimşek‐Kiper, P. Ö., Alanay, Y., Aktaş, D., Boduroğlu, K., & Alikaşifoğlu, M. (2013) · Journal of Child Neurology · doi:10.1177/0883073813484967 · Cited by 72

Systematic review of autosomal recessive ataxias and proposal for a classification

Beaudin, M., Klein, C. J., Rouleau, G. A., & Dupré, N. (2017) · Cerebellum & Ataxias · doi:10.1186/s40673-017-0061-y · Cited by 74

Delayed‐onset Friedreich's ataxia revisited

Lecocq, C., Charles, P., Azulay, J., Meissner, W. G., Rai, M., Nguyen, K., Péréon, Y., Fabre, N., Robin, E., Courtois, S., et al. (2015) · Movement Disorders · doi:10.1002/mds.26382 · Cited by 75

Movement disorders in mitochondrial diseases

Tranchant, C., & Anheim, M. (2016) · Revue Neurologique · doi:10.1016/j.neurol.2016.07.003 · Cited by 69

Disruptive SCYL1 Mutations Underlie a Syndrome Characterized by Recurrent Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia

Schmidt, W. M., Rutledge, S. L., Schüle, R., Mayerhofer, B., Zuchner, S. L., Boltshauser, E., & Bittner, R. E. (2015) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2015.10.011 · Cited by 67

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Smets, K., Duarri, A., Deconinck, T., Ceulemans, B., van de Warrenburg, B. P. C., Zuchner, S. L., Gonzalez, M., Schüle, R., Synofzik, M., der Aa, N. V., et al. (2015) · BMC Medical Genetics · doi:10.1186/s12881-015-0200-3 · Cited by 66

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation

Synofzik, M., Hagen, J. M. V., Haack, T. B., Wilhelm, C., Lindig, T. M., Beck‐Wödl, S., Nabuurs, S. B., Kuilenburg, A. B. P., de Brouwer, A. P. M., & Schöls, L. J. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-9-24 · Cited by 65

Cerebellar and Afferent Ataxias

Pandolfo, M., & Manto, M. U. (2013) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/01.con.0000436158.39285.22 · Cited by 64

Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease

Dumitrache, L. C., & McKinnon, P. J. (2017) · Mechanisms of Ageing and Development · doi:10.1016/j.mad.2016.04.009 · Cited by 67

Autosomal Recessive Cerebellar Ataxia Type 3 Due toANO10Mutations

Renaud, M., Anheim, M., Kamsteeg, E., Mallaret, M., Mochel, F., Vermeer, S., Drouot, N., Pouget, J., Redin, C. E., Salort‐Campana, E., et al. (2014) · JAMA Neurology · doi:10.1001/jamaneurol.2014.193 · Cited by 62

Clinical presentation and early evolution of spastic ataxia of Charlevoix‐Saguenay

Duquette, A., Brais, B., Bouchard, J., & Mathieu, J. (2013) · Movement Disorders · doi:10.1002/mds.25604 · Cited by 61

Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts

Synofzik, M., Schüle, R., Schulze, M., Gburek‐Augustat, J., Schweizer, R., Schirmacher, A., Krägeloh‐Mann, I., Gonzalez, M., Young, P., Zuchner, S. L., et al. (2014) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-9-57 · Cited by 64

The cardiomyopathy in Friedreich's ataxia — New biomarker for staging cardiac involvement

Weidemann, F., Liu, D., Hu, K., Florescu, C., Niemann, M., Herrmann, S., Kramer, B., Klebe, S., Doppler, K., Üçeyler, N., et al. (2015) · International Journal of Cardiology · doi:10.1016/j.ijcard.2015.05.074 · Cited by 59

Ataxia, Intellectual Disability, and Ocular Apraxia with Cerebellar Cysts: A New Disease?

Poretti, A., Häusler, M., von Moers, A., Baumgartner, B., Zerres, K., Klein, A., Aiello, C., Moro, F., Zanni, G., Santorelli, F. M., et al. (2013) · The Cerebellum · doi:10.1007/s12311-013-0521-8 · Cited by 58

Adeno-Associated Virus Vector for Central Nervous System Gene Therapy

Zhu, D., Schieferecke, A. J., Lopez, P. A., & Schaffer, D. V. (2021) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2021.03.010 · Cited by 56

Ataxia

Kuo, S. (2019) · CONTINUUM Lifelong Learning in Neurology · doi:10.1212/con.0000000000000753 · Cited by 55

Update on Cerebellar Ataxia with Neuropathy and Bilateral Vestibular Areflexia Syndrome (CANVAS)

Dupré, M., Hermann, R., & Tilikete, C. (2020) · The Cerebellum · doi:10.1007/s12311-020-01192-w · Cited by 58

Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency

Nogueira, C., Barros, J., Sá, M. J., Azevedo, L., Taipa, R. J. F., Torraco, A., Meschini, M. C., Verrigni, D., Nesti, C., Rizza, T., et al. (2013) · Neurogenetics · doi:10.1007/s10048-013-0361-1 · Cited by 51

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

Pearson, T. S. (2016) · Tremor and Other Hyperkinetic Movements · doi:10.5334/tohm.319 · Cited by 51

Consensus Paper: Radiological Biomarkers of Cerebellar Diseases

Baldarçara, L., Currie, S., Hadjivassiliou, M., Hoggard, N., Jack, A., Jackowski, A. P., Mascalchi, M., Parazzini, C., Reetz, K., Righini, A., et al. (2014) · The Cerebellum · doi:10.1007/s12311-014-0610-3 · Cited by 48

SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein

Nanetti, L., Cavalieri, S., Pensato, V., Erbetta, A., Pareyson, D., Panzeri, M., Zorzi, G. S., Antozzi, C. G., Moroni, I., Gellera, C., et al. (2013) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-8-123 · Cited by 49

Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann-Pick C disease

Anheim, M., Lagha‐Boukbiza, O., Fleury, M., Valenti‐Hirsch, M., Hirsch, É., Gervais‐Bernard, H., Broussolle, E., Thobois, S., Vanier, M. T., Latour, P., et al. (2013) · Journal of Neurology · doi:10.1007/s00415-013-7159-9 · Cited by 47

Genetics of dizziness

Requena, T., Espinosa-Sánchez, J. M., & Lopez-Escamez, J. A. (2013) · Current Opinion in Neurology · doi:10.1097/wco.0000000000000053 · Cited by 47

Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome

Guissart, C., Li, X., Leheup, B., Drouot, N., Montaut-Verient, B., Raffo, E., Jonveaux, P., Roux, A., Claustres, M., Fliegel, L., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu461 · Cited by 46

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

Elsayed, S. M., Heller, R., Thoenes, M., Zaki, M. S., Swan, D., Elsobky, E. S., Zühlke, C., Ebermann, I., Nürnberg, G., Nürnberg, P., et al. (2013) · European Journal of Human Genetics · doi:10.1038/ejhg.2013.150 · Cited by 45

ICON: The Early Diagnosis of Congenital Immunodeficiencies

Routes, J. M., Abinun, M., Al–Herz, W., Bustamante, J. C., Condino‐Neto, A., de la Morena, M. T., Etzioni, A., Gambineri, E., Haddad, É., Kobrynski, L. J., et al. (2014) · Journal of Clinical Immunology · doi:10.1007/s10875-014-0003-x · Cited by 46

Cerebellar ataxia and severe muscle CoQ10 deficiency in a patient with a novel mutation in ADCK3

Barca, E., Musumeci, O., Montagnese, F., Marino, S., Granata, F., Nunnari, D., Peverelli, L., DiMauro, S., Quinzii, C. M., & Toscano, A. (2016) · Clinical Genetics · doi:10.1111/cge.12742 · Cited by 45

Acute Ataxia in Children: A Review of the Differential Diagnosis and Evaluation in the Emergency Department

Caffarelli, M., Kimia, A. A., & Torres, A. R. (2016) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2016.08.025 · Cited by 45

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

Tingaud‐Sequeira, A., Raldúa, D., Lavie, J., Mathieu, G., Bordier, M., Knoll‐Gellida, A., Rambeau, P., Coupry, I., André, M., Malm, E., et al. (2016) · Neurobiology of Disease · doi:10.1016/j.nbd.2016.11.008 · Cited by 45

Coenzyme Q10 and spinocerebellar ataxias

Lo, R. Y., Figueroa, K. P., Pulst, S. M., Lin, C.-Y. R., Perlman, S., Wilmot, G. R., Gomez, C. M., Schmahmann, J. D., Paulson, H. L., Shakkottai, V. G., et al. (2014) · Movement Disorders · doi:10.1002/mds.26088 · Cited by 44

Early-onset autosomal recessive cerebellar ataxia associated with retinal dystrophy: new human hotfoot phenotype caused by homozygous GRID2 deletion

Schil, K. V., Meire, F. M., Karlstetter, M., Bauwens, M., Verdin, H., Coppieters, F., Scheiffert, E., Nechel, C. V., Langmann, T., Deconinck, N., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.95 · Cited by 44

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work

Gebus, O., Montaut, S., Monga, B., Wirth, T., Chéraud, C., Rego, C. A. D., Zinchenko, I., Carré, G., Hamdaoui, M., Hautecloque, G., et al. (2017) · Journal of Neurology · doi:10.1007/s00415-017-8500-5 · Cited by 44

More than ataxia – Movement disorders in ataxia-telangiectasia

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De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function

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Autosomal recessive cerebellar ataxia of adult onset due to STUB1 Mutations

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Hereditary Ataxias in Cuba: A Nationwide Epidemiological and Clinical Study in 1001 Patients

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Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1

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Cutaneous and muscular afferents from the foot and sensory fusion processing: Physiology and pathology in neuropathies

Felicetti, G., Thoumie, P., Do, M., & Schieppati, M. (2021) · Journal of the Peripheral Nervous System · doi:10.1111/jns.12429 · Cited by 44

Expanding the ataxia with oculomotor apraxia type 4 phenotype

Paucar, M., Malmgren, H., Taylor, A. M. R., Reynolds, J. J., Svenningsson, P., Press, R., & Nordgren, A. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000049 · Cited by 40

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias

Marelli, C., Guissart, C., Hubsch, C. A., Renaud, M., Villemin, J.-P., Larrieu, L., Charles, P., Ayrignac, X., Sacconi, S., Collignon, P., et al. (2016) · Human Mutation · doi:10.1002/humu.23063 · Cited by 40

A recessive ataxia diagnosis algorithm for the next generation sequencing era

Renaud, M., Tranchant, C., Martin, J. V. T., Mochel, F., Synofzik, M., van de Warrenburg, B. P. C., Pandolfo, M., Koenig, M., Kolb, S., Anheim, M., et al. (2017) · Annals of Neurology · doi:10.1002/ana.25084 · Cited by 40

Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice

Ilg, W., Branscheidt, M., Butala, A., Celnik, P. A., de Paola, L., Horak, F. B., Schöls, L. J., Teive, H. A. G., Vogel, A. P., Zee, D. S., et al. (2018) · The Cerebellum · doi:10.1007/s12311-018-0937-2 · Cited by 41

Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker

Renaud, M., Tranchant, C., Koenig, M., & Anheim, M. (2020) · Movement Disorders · doi:10.1002/mds.28307 · Cited by 41

Syndromic retinitis pigmentosa.

Karuntu, J. S., Almushattat, H., Nguyen, X.-T.-A., Plomp, A. S., Wanders, R. J. A., Hoyng, C. B., van Schooneveld, M. J., Schalij-Delfos, N. E., Brands, M. M., Leroy, B. P., et al. (2025) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2024.101324 · Cited by 39

Pathogenic mechanisms underlying spinocerebellar ataxia type 1

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Current concepts in the treatment of hereditary ataxias

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Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia

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Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy

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Role of Corticotropin-Releasing Factor in Cerebellar Motor Control and Ataxia

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Cerebellar ataxia and functional genomics: Identifying the routes to cerebellar neurodegeneration

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Dystonia and Cerebellum: From Bench to Bedside

Morigaki, R., Miyamoto, R., Matsuda, T., Miyake, K., Yamamoto, N., & Takagi, Y. (2021) · Life · doi:10.3390/life11080776 · Cited by 33

Heterogeneity in clinical features and disease severity in ataxia-associated SYNE1 mutations

Wiethoff, S., Hersheson, J., Bettencourt, C., Wood, N. W., & Houlden, H. (2016) · Journal of Neurology · doi:10.1007/s00415-016-8148-6 · Cited by 32

Comparing ataxias with oculomotor apraxia: a multimodal study of AOA1, AOA2 and AT focusing on video-oculography and alpha-fetoprotein

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The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease

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In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

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ATP8A2-related disorders as recessive cerebellar ataxia

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Pathophysiogical and therapeutic progress in Friedreich ataxia

Puccio, H. M., Anheim, M., & Tranchant, C. (2014) · Revue Neurologique · doi:10.1016/j.neurol.2014.03.008 · Cited by 31

The Salih Ataxia Mutation Impairs Rubicon Endosomal Localization

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Autosomal-recessive cerebellar ataxias

Fogel, B. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00013-0 · Cited by 29

Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Cheng, H., Shao, Y.-R., Dong, Y., Dong, H., Yang, L., Ma, Y., Shen, Y., & Wu, Z. (2021) · Translational Neurodegeneration · doi:10.1186/s40035-021-00264-z · Cited by 28

High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families

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Ataxias

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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

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Genetics of recessive ataxia

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