Skip to main content
Log in

Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa

  • Letter to the Editor
  • Published:
Acta Neurologica Belgica Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Fig. 1

References

  1. Groen JL, Andrade A, Ritz K, Jalalzadeh H, Haagmans M, Bradley TEJ et al (2014) CACNA1B mutation is linked to unique myoclonus-dystonia syndrome. Hum Mol Genet 24(4):987–993. https://doi.org/10.1093/hmg/ddu513

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  2. Williams M, Brust PF, Feldman DH, Patthi S, Simerson S, Maroufi et al (1992) Structure and functional expression of an ??—conotoxin-sensitive human N-type calcium channel. Science (New York, NY) 257:389–395. https://doi.org/10.1126/science.1321501

    Article  CAS  Google Scholar 

  3. Domingo A, Erro R, Lohmann K (2016) Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing. Mov Disord 31(4):471–477. https://doi.org/10.1002/mds.26600

    Article  CAS  PubMed  Google Scholar 

  4. Mencacci N, R’Bibo L, BandrésCiga S, Carecchio M, Zorzi G, Nardocci N et al (2015) The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. Hum Mol Genet. https://doi.org/10.1093/hmg/ddv255

    Article  PubMed  PubMed Central  Google Scholar 

  5. Gorman K, Meyer E et al (2019) Bi-allelic loss-of-function CACNA1B mutations in progressive epilepsy-dyskinesia. Am J Hum Genet. https://doi.org/10.1016/j.ajhg.2019.03.005

    Article  PubMed  PubMed Central  Google Scholar 

  6. Yamaguchi M, Nakayama T, Fu Z, Sato N, Soma M, Morita et al (2010) The haplotype of the CACNA1B gene associated with cerebral infarction in a Japanese population. Hereditas 147:313–319. https://doi.org/10.1111/j.1601-5223.2009.02115.x

    Article  PubMed  Google Scholar 

  7. Curtis D, Vine A, Mcquillin A, Bass N, Parente-Pereira A, Kandaswamy R et al (2010) Case-case genome-wide association analysis shows markers differentially associated with schizophrenia and bipolar disorder and implicates calcium channel genes. Psychiatr Genet 21:1–4. https://doi.org/10.1097/YPG.0b013e3283413382

    Article  Google Scholar 

  8. Cocoș R, Raicu F, Băjenaru OL, Olaru I, Dumitrescu L, Popescu BO (2021) CACNA1B gene variants in adult-onset isolated focal dystonia. Neurol Sci 42(3):1113–1117. https://doi.org/10.1007/s10072-020-04778-8

    Article  PubMed  Google Scholar 

  9. Lee WW, Jeon B, Kim R (2018) Expanding the spectrum of dopa-responsive dystonia (DRD) and proposal for new definition: DRD, DRD-plus, and DRD Look-alike. J Korean Med Sci 33(28):e184. https://doi.org/10.3346/jkms.2018.33.e184

    Article  CAS  PubMed  PubMed Central  Google Scholar 

Download references

Funding

Nil.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Suresha Kodapala.

Ethics declarations

Conflict of interest

The authors declare that they have conflict of interest.

Ethical approval

All the procedures performed in the study involving human participants were in accordance with the ethical standards of the institutional ethics committee and with the 1964 Helsinki declaration and its later amendments.

Informed consent

Informed consent was obtained from study participant included in the case report.

Additional information

Publisher's Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary file1 Video 1: Segment 1 (0–30 s): patient is Curled up in the bed with dystonic posturing in all four limbs with reducible contractures at hip, knee, ankle, elbow and wrist. Segment 2 (31–79 s): improvement in symptoms after 3 months of Levodopa use as patients could extend all four limbs, sit and stand with support (MP4 9352 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Krishnaveni, V., Ganaraja, V.H., Mala, K. et al. Generalised dystonic presentation of CACNA1B-associated dystonia and its response to Levodopa. Acta Neurol Belg 123, 1537–1539 (2023). https://doi.org/10.1007/s13760-022-01988-z

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s13760-022-01988-z

Keywords

Navigation