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

Krankheiten des extrapyramidalen Systems und Neurotransmitterkrankheiten bei Kindern und Jugendlichen

Assmann, B. E. (2015) · Springer eBooks · doi:10.1007/978-3-642-54671-6_256-1

subtypes in a Norwegian patient population

Wedding, I. M. (2015)

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in a Portuguese child caused by a novel SACS mutation

Pimenta, J. M., Costa, C., Alonso, I. D. C. M. P., Brandão, A. F., Sequeiros, J., Negrão, L., & Fineza, I. (2017) · Pediatric Dimensions · doi:10.15761/pd.1000137

Taxonomía de las ataxias. Algoritmo de la falta de ritmo

Boll, M., Rodríguez-Ibarra, S. N., Ochoa, A., Martínez‐Ruano, L., & Rodríguez-Ortiz, U. (2016) · Archivos de Neurociencias · doi:10.31157/an.v21i3.122

Spinozerebelläre Ataxien und hereditäre spastische Paraplegien bei Kindern und Jugendlichen

Wolf, N. I. (2019) · Springer Reference Medizin · doi:10.1007/978-3-642-54671-6_258-2

Expanding the spectrum of polymerase gamma-related ataxia

Gupta, H., Karlowski, K., & Burka, T. (2019) · Annals of Indian Academy of Neurology · doi:10.4103/aian.aian_3_19

Challenging clinical cases.

Milano, G. (2018)

DNA Sequencing Resolves Misdiagnosed and Rare Genetic Disorders

Aleem, A. K. A. (2019) · IntechOpen eBooks · doi:10.5772/intechopen.86556

Friedreich Ataxia

Pandolfo, M. (2014) · Elsevier eBooks · doi:10.1016/b978-0-12-417044-5.00049-4

Spinozerebelläre Ataxien und hereditäre spastische Paraplegien

Wolf, N. I. (2020) · Springer Reference Medizin · doi:10.1007/978-3-662-60300-0_258

Ataxia

Reetz, K., & Binkofski, F. (2013) · Cambridge University Press eBooks · doi:10.1017/cbo9781139207294.016

Analyses génétiques et affections spino-cérébelleuses : splendeurs et misères

Tranchant, C. (2022) · Pratique Neurologique - FMC · doi:10.1016/j.praneu.2021.12.001

Development of Physiological Activity in the Cerebellum

Jayabal, S., & Watt, A. J. (2021) · Springer eBooks · doi:10.1007/978-3-030-23810-0_111

Approach to the Differential Diagnosis of Cerebellar Ataxias

Palau, F., & Espinós, C. (2021) · Springer eBooks · doi:10.1007/978-3-030-23810-0_81

Evaluation of Clinical and Magnetic Resonance Spectroscopy Characterization of Patients with Ataxia Telengectisa

Ibrahem, K. A. M., Alkholy, U. M., Almalky, M. A. E., & Basha, M. A. A. (2022) · The Egyptian Journal of Hospital Medicine · doi:10.21608/ejhm.2022.234289

Neurogenetik

Freilinger, T. M., & Dichgans, M. (2016) · Springer-Lehrbuch · doi:10.1007/978-3-662-46892-0_39

Neurodegenerative Krankheiten der weißen Hirnsubstanz

Brockmann, K., Henneke, M., & Kohlschütter, A. (2015) · Springer eBooks · doi:10.1007/978-3-642-54671-6_255-1

Ataxia

Schöls, L. J., & Klockgether, T. (2014) · Neuropsychiatric symptoms of neurological disease · doi:10.1007/978-3-319-09537-0_13

Friedreich ataxia

Pandolfo, M. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-813866-3.00006-0

Infantile neuroaxonale Dystrophie Seitelberger und Cockayne-Syndrom

Korinthenberg, R. (2015) · Springer eBooks · doi:10.1007/978-3-642-54671-6_259-1

Spinozerebelläre Ataxien und hereditäre spastische Paraplegien bei Kindern und Jugendlichen

Wolf, N. I. (2015) · Springer eBooks · doi:10.1007/978-3-642-54671-6_258-1

Approach to the Differential Diagnosis of Cerebellar Ataxias

Palau, F., & Espinós, C. (2019) · Springer eBooks · doi:10.1007/978-3-319-97911-3_81-2

Vitaminresponsive Enzephalopathien bei Kindern und Jugendlichen

Plecko, B. (2015) · Springer eBooks · doi:10.1007/978-3-642-54671-6_257-1

Atrofia multisistemica

Fabbri, M., Foubert‐Samier, A., Traon, A. P., Rascol, O., & Meissner, W. G. (2022) · EMC - Neurologia · doi:10.1016/s1634-7072(22)47094-2

Homozygosis variant p.asn115* in the ANO10 gene: a new discovered cause of spinocerebellar Ataxia

Rodríguez, I. B., Luque, A. A., & Casado, L. G.-T. (2022) · International Physical Medicine & Rehabilitation Journal · doi:10.15406/ipmrj.2022.07.00319

Overview of Ataxia in Childhood

Boltshauser, E. (2023) · Springer eBooks · doi:10.1007/978-3-031-15070-8_80

A Spotlight on Friedreich Ataxia: Optimising the Patient Journey from Diagnosis to Disease Management

Anheim, M., Giunti, P., & Humphry, N. (2023) · EMJ Neurology · doi:10.33590/emjneurol/10301016

Clinical Reasoning: A 48-Year-Old Man With Spasticity and Progressive Ataxia

Vizcarra, J. A., Paul, R. A., Hamedani, A. G., Lynch, D. R., & Aamodt, W. W. (2023) · Neurology · doi:10.1212/wnl.0000000000207658

Epidemiological features of the distribution of hereditary cerebellar ataxia

Abramovskikh, L. E., Иванович, П. П., Voevoda, M. I., & Maksimova, Y. V. (2023) · JOURNAL of SIBERIAN MEDICAL SCIENCES · doi:10.31549/2542-1174-2023-7-3-132-144

Additional file 3 of 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) · Figshare · doi:10.6084/m9.figshare.16829585

Additional file 4 of 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) · Figshare · doi:10.6084/m9.figshare.16829588

A juvenile-onset case of autosomal recessive spastic ataxia of charlevoix–saguenay with a novel mutation in the SACS gene

Önder, H., Topçu, V., & Çomoǧlu, S. (2023) · Annals of Movement Disorders · doi:10.4103/aomd.aomd_15_22

The Importance of Early Recognition, Diagnosis, and Treatment of Friedreich Ataxia

Roberts, E. (2024) · European Medical Journal · doi:10.33590/emj/rscj7037

Ataxia without oculomotor apraxia - An unfamiliar tale of imbalance

Paramanandam, V., Madhuri, A., Indumathi, N., & Kumar, A. M. (2024) · Annals of Movement Disorders · doi:10.4103/aomd.aomd_23_24

Ataxia

Kremer, B. H. P. H., & Tarnutzer, A. A. (2025) · Cambridge University Press eBooks · doi:10.1017/9781108989855.048

Mitochondrial Movement Disorders

Jung, H. H., & Wolters, E. C. (2025) · Cambridge University Press eBooks · doi:10.1017/9781108989855.008

2024 Annual Highlights of the Resident & Fellow Section: A Representative Collection of Previously Published Articles

Aamodt, W. W., Fu, K. A., & Lyons-Warren, A. M. (2024) · Neurology · doi:10.1212/wnl.0000000000213620

The Shrunken and Bright Cerebellum: A Rare Case Series Report in Congenital Disorders of Glycosylation Type 1a and Marinesco-Sjogren Syndrome

Harshendra, S. G., & Goudar, P. S. (2025) · doi:10.38124/ijisrt/25mar1447

Orthopedic manifestations of ataxia telangiectasia in children

Çiftçi, S., Gupta, A. K., Ulusaloğlu, A. C., Rogers, K. J., Shieh, E., Heinle, R., Kumar, M., & Howard, J. (2025) · Journal of Pediatric Orthopaedics B · doi:10.1097/bpb.0000000000001294

Additional file 1 of Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings

Saito, R., Hara, N., Tada, M., Honma, Y., Miyashita, A., Onodera, O., Ikeuchi, T., & Kakita, A. (2020) · Figshare · doi:10.6084/m9.figshare.12872096

Additional file 1 of Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias

Cheng, H.-L., Shao, Y.-R., Dong, Y., Dong, H.-L., Yang, L., Ma, Y., Shen, Y., & 吴志英 (2021) · Figshare · doi:10.6084/m9.figshare.16829582

Ataxia Telangiectasia

Verzì, A. E., Dimarco, S., Lacarrubba, F., & Micali, G. (2025) · Springer eBooks · doi:10.1007/978-3-031-91679-3_41

Identification de nouveaux gènes d'ataxies récessives syndromiques : implication des désordres métaboliques modérés

Guissart, C. (2016) · theses.fr (ABES) · doi:10.70675/d7bc59fezae20z4597zb197z7eb32251dfff

Compréhension de la neurophysiopathologie de l'ataxie de Friedreich et développement d'une approche de thérapie génique dans un nouveau modèle murin

de Montigny, C. (2018) · theses.fr (ABES) · doi:10.70675/a1f7a095z60c9z45dbz926azd3bed4a75400

Interactions propriocepteurs et cellules satellites gliales dans l’ataxie de Friedreich

Meriau, P. (2022) · theses.fr (ABES) · doi:10.70675/7b9be03cz60c9z4774z9d6cz72cd5c3f9788

The Affective Cerebellum: The Role of the Posterior Fossa in Pediatric Neuropsychiatry

Soe, K. C., Abbasy, M. S., Gupta, R., Corominas, S. V., & Karlsson, C. D. (2026) · Springer eBooks · doi:10.1007/978-3-032-10099-3_7

The multifaceted role of ATM protein in neural stem/progenitor cell biology and neurogenesis: beyond DNA damage response

Boni, G., & Grilli, M. (2026) · Frontiers in Pharmacology · doi:10.3389/fphar.2026.1751635

N-acetyl-L-leucine in Neurological Disorders: Mechanisms, Evidence, and Therapeutic Perspectives

Abid, M., Akhtar, S., Amjad, H., Farooqui, S. K., Naz, T., Shakil, S., Alghzawi, H. M., Hafeez, A., Vossenkaul, A., Brechbühl, C., et al. (2026) · The Cerebellum · doi:10.1007/s12311-026-01996-2

Genomic Landscape and Phenotypic Spectrum of Autosomal Recessive Cerebellar Ataxia in China

Shen, X., Chen, Z., Peng, H., Long, Z., Wang, C., Wan, L., Peng, L., Qiu, R., Tang, B., & Jiang, H. (2026) · Movement Disorders · doi:10.1002/mds.70381

Autosomal recessive cerebellar ataxia: What have we learnt in the last 30 years?

Tranchant, C. (2026) · Revue Neurologique · doi:10.1016/j.neurol.2026.09.002

Large-scale genetic profiling of hereditary ataxias in China: implications for a stepwise molecular diagnostic strategy

Yu, J., Sun, Y.-M., Dong, Y., Wu, J., Zhu, C.-H., Du, Y., Zhang, Y.-X., Zhang, Y., Zou, S.-M., Ma, Y., et al. (2026) · Translational Neurodegeneration · doi:10.1186/s40035-026-00584-y

Deconstructing Ataxia with Oculomotor Apraxia: Toward a Gene‐Based Classification and a Reappraisal of the Oculomotor Phenotype

Novis, L. E., Filho, F. M. R., Gomes, A. M., Procaci, V. R., Barsottini, O. G. P., & Pedroso, J. L. (2026) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.70846

Neurometabolische und neurodegenerative Erkrankungen

Hanefeld, F. A., Kohlschütter, A., Brockmann, K., Henneke, M., Assmann, B. E., Plecko, B., Wolf, N. I., & Korinthenberg, R. (2014) · Springer eBooks · doi:10.1007/978-3-642-41866-2_211

Neuroimaging of Ataxias

D’Abreu, A., & Cendes, F. (2013) · Humana Press eBooks · doi:10.1007/978-1-62703-471-5_14

Genetics of Recessive Ataxias

Klebe, S., & Anheim, M. (2015) · Springer eBooks · doi:10.1007/978-3-319-17223-1_12

Hereditäre Bewegungsstörungen

Klein, C., Korinthenberg, R., Münchau, A. M., Schöls, L. J., & Synofzik, M. (2014) · Elsevier eBooks · doi:10.1016/b978-3-437-23076-9.00006-1

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