Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, Schöls L, Synofzik M, Sturm M, Tallaksen C, Wedding IM, Boesch S, Eigentler A, van de Warrenburg B, van Gaalen J, Kamm C, Dudesek A, Kang JS, Timmann D, Silvestri G, Masciullo M, Klopstock T, Neuhofer C, Ganos C, Filla A, Bauer P, Tezenas du Montcel S, Klockgether T. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology. 2017;89:1043–9. https://doi.org/10.1212/WNL.0000000000004311.

Article  PubMed  Google Scholar 

Lübbert M, Goral RO, Keine C, Thomas C, Guerrero-Given D, Putzke T, Satterfield R, Kamasawa N. Young SM Jr. CaV2.1 α1 Subunit Expression Regulates Presynaptic CaV2.1 Abundance and Synaptic Strength at a Central Synapse. Neuron. 2019;101(2):260-273.e6. https://doi.org/10.1016/j.neuron.2018.11.028.

Article  CAS  PubMed  Google Scholar 

Hommersom MP, van Prooije TH, Pennings M, Schouten MI, van Bokhoven H, Kamsteeg EJ, van de Warrenburg BPC. The complexities of CACNA1A in clinical neurogenetics. J Neurol. 2022;269(6):3094–108. https://doi.org/10.1007/s00415-021-10897-9.

Article  CAS  PubMed  Google Scholar 

Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. Nat Genet. 1997;15(1):62–9. https://doi.org/10.1038/ng0197-62.

Article  CAS  PubMed  Google Scholar 

Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet. 1997;6(11):1973–8. https://doi.org/10.1093/hmg/6.11.1973.

Article  CAS  PubMed  Google Scholar 

Yue Q, Jen JC, Nelson SF, Baloh RW. Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet. 1997;61(5):1078–87. https://doi.org/10.1086/301613.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Coutelier M, Coarelli G, Monin ML, Konop J, Davoine CS, Tesson C, Valter R, Anheim M, Behin A, Castelnovo G, Charles P, David A, Ewenczyk C, Fradin M, Goizet C, Hannequin D, Labauge P, Riant F, Sarda P, Sznajer Y, Tison F, Ullmann U, Van Maldergem L, Mochel F, Brice A, Stevanin G, Durr A. SPATAX network. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain. 2017;140(6):1579–94. https://doi.org/10.1093/brain/awx081.

Article  PubMed  Google Scholar 

Cheng HL, Shao YR, Dong Y, Dong HL, Yang L, Ma Y, Shen Y, Wu ZY. Genetic spectrum and clinical features in a cohort of Chinese patients with autosomal recessive cerebellar ataxias. Transl Neurodegener. 2021;10(1):40. https://doi.org/10.1186/s40035-021-00264-z.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Xie JJ, Ni W, Wei Q, Ma H, Bai G, Shen Y, Wu ZY. New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies. CNS Neurosci Ther. 2020;26(5):567–75. https://doi.org/10.1111/cns.13284.

Article  PubMed  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL. ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24. https://doi.org/10.1038/gim.

Article  PubMed  PubMed Central  Google Scholar 

Alonso I, Barros J, Tuna A, Seixas A, Coutinho P, Sequeiros J, Silveira I. A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. Clin Genet. 2004;65(1):70–2. https://doi.org/10.1111/j.2004.00187.x.

Article  CAS  PubMed  Google Scholar 

Du X, Wang J, Zhu H, Rinaldo L, Lamar KM, Palmenberg AC, Hansel C, Gomez CM. Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6. Cell. 2013;154(1):118–33. https://doi.org/10.1016/j.cell.2013.05.059.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Balck A, Hanssen H, Hellenbroich Y, Lohmann K, Münchau A. Adult-onset ataxia or developmental disorder with seizures: two sides of missense changes in CACNA1A. J Neurol. 2017;264(7):1520–2. https://doi.org/10.1007/s00415-017-8494-z.

Article  PubMed  Google Scholar 

Bürk K, Kaiser FJ, Tennstedt S, Schöls L, Kreuz FR, Wieland T, Strom TM, Büttner T, Hollstein R, Braunholz D, Plaschke J, Gillessen-Kaesbach G, Zühlke C. A novel missense mutation in CACNA1A evaluated by in silico protein modeling is associated with non-episodic spinocerebellar ataxia with slow progression. Eur J Med Genet. 2014;57(5):207–11. https://doi.org/10.1016/j.ejmg.2014.01.005.

Article  PubMed  Google Scholar 

Duque KR, Marsili L, Sturchio A, Mahajan A, Merola A, Espay AJ, Kauffman MA. Progressive Ataxia with Hemiplegic Migraines: a Phenotype of CACNA1A Missense Mutations Not CAG Repeat Expansions. Cerebellum. 2021;20(1):134–9. https://doi.org/10.1007/s12311-020-01185-9.

Article  CAS  PubMed  Google Scholar 

Marti S, Baloh RW, Jen JC, Straumann D, Jung HH. Progressive cerebellar ataxia with variable episodic symptoms–phenotypic diversity of R1668W CACNA1A mutation. Eur Neurol. 2008;60(1):16–20. https://doi.org/10.1159/000127974.

Article  PubMed  Google Scholar 

Romaniello R, Zucca C, Tonelli A, Bonato S, Baschirotto C, Zanotta N, Epifanio R, Righini A, Bresolin N, Bassi MT, Borgatti R. A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation. J Neurol Neurosurg Psychiatry. 2010;81(8):840–3. https://doi.org/10.1136/jnnp.2008.163402.

Article  PubMed  Google Scholar 

Cricchi F, Di Lorenzo C, Grieco GS, Rengo C, Cardinale A, Racaniello M, Santorelli FM, Nappi G, Pierelli F, Casali C. Early-onset progressive ataxia associated with the first CACNA1A mutation identified within the I-II loop. J Neurol Sci. 2007;254(1–2):69–71. https://doi.org/10.1016/j.jns.2007.01.008.

Article  CAS  PubMed  Google Scholar 

Tonelli A, D’Angelo MG, Salati R, Villa L, Germinasi C, Frattini T, Meola G, Turconi AC, Bresolin N, Bassi MT. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene. J Neurol Sci. 2006;241(1–2):13–7. https://doi.org/10.1016/j.jns.2005.10.007.

Article  CAS  PubMed  Google Scholar 

Gauquelin L, Hawkins C, Tam EWY, Miller SP, Yoon G. Pearls & Oy-sters: Fatal brain edema is a rare complication of severe CACNA1A-related disorder. Neurology. 2020;94(14):631–4. https://doi.org/10.1212/WNL.0000000000009223.

Article  PubMed  Google Scholar