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

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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 · see citing works

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

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CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

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Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia

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Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond

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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 · see citing works

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

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

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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 · see citing works

Ataxia–telangiectasia, an evolving phenotype

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

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

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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 · see citing works

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

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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 · see citing works

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 · see citing works

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 289 · see citing works

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias

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

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Diagnosis and treatment of Friedreich ataxia: a European perspective

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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 · see citing works

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

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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 · see citing works

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

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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 · see citing works

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 · see citing works

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 · see citing works

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 185 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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 · see citing works

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

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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 112 · see citing works

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 · see citing works

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

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Clinical and genetic study of autosomal recessive cerebellar ataxia type 1

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

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

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

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Phenotypic variability of aprataxin gene mutations

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

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Refsum’s Disease: Management by Diet and Plasmapheresis

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Fixation instability and oculomotor abnormalities in Friedreich's ataxia

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

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

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

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

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

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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 · see citing works

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 655 · see citing works

Mechanisms of ATM Activation

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Genetics of dementia

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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 · see citing works

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

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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 · see citing works

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 · see citing works

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

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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 175 · see citing works

T-cell aging in rheumatoid arthritis

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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 · see citing works

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

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

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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 · see citing works

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 121 · see citing works

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 · see citing works

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 117 · see citing works

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

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

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

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

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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 · see citing works

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

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Dystonia

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

Recessive ataxias

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The genetic nomenclature of recessive cerebellar ataxias

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Mutation in noncoding RNA RNU12 causes early onset cerebellar ataxia

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Motor neuron pathology in CANVAS due to RFC1 expansions

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UBA5 Mutations Cause a New Form of Autosomal Recessive Cerebellar Ataxia

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

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Alpha-fetoprotein, a fascinating protein and biomarker in neurology

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ANO10 mutations cause ataxia and coenzyme Q10 deficiency

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The pleiotropic movement disorders phenotype of adult ataxia-telangiectasia

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The inherited cerebellar ataxias: an update

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Primary and secondary ataxias

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

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

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

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

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

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Systematic review of autosomal recessive ataxias and proposal for a classification

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Delayed‐onset Friedreich's ataxia revisited

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Movement disorders in mitochondrial diseases

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

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

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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

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Cerebellar and Afferent Ataxias

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Polynucleotide kinase-phosphatase (PNKP) mutations and neurologic disease

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Autosomal Recessive Cerebellar Ataxia Type 3 Due toANO10Mutations

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

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

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

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

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Adeno-Associated Virus Vector for Central Nervous System Gene Therapy

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Ataxia

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

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

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

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Consensus Paper: Radiological Biomarkers of Cerebellar Diseases

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

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

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Genetics of dizziness

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

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

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ICON: The Early Diagnosis of Congenital Immunodeficiencies

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

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

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Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

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Coenzyme Q10 and spinocerebellar ataxias

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

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

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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

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Expanding the ataxia with oculomotor apraxia type 4 phenotype

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

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A recessive ataxia diagnosis algorithm for the next generation sequencing era

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Consensus Paper: Neurophysiological Assessments of Ataxias in Daily Practice

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

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Syndromic retinitis pigmentosa.

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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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Dystonia and Cerebellum: From Bench to Bedside

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

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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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ATP8A2-related disorders as recessive cerebellar ataxia

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Pathophysiogical and therapeutic progress in Friedreich ataxia

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The Salih Ataxia Mutation Impairs Rubicon Endosomal Localization

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Ataxias

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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 36 · see citing works

Genetics of recessive ataxia

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