Have a personal or library account? Click to login
Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I – A Case Report Cover

Longitudinal Syringomyelia, Cervical Dystonia, and Action Tremor in Trichorhinophalangeal Syndrome Type I – A Case Report

Open Access
|Dec 2025

References

  1. Tüysüz B, Güneş N, Alkaya DU. Trichorhinophalangeal Syndrome. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993 [cited 2025 July 6]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK425926/.
  2. Momeni P, Glöckner G, Schmidt O, von Holtum D, Albrecht B, Gillessen-Kaesbach G, et al. Mutations in a new gene, encoding a zinc-finger protein, cause tricho-rhino-phalangeal syndrome type I. Nat Genet. 2000 Jan;24(1):714. DOI: 10.1038/71717
  3. Gai Z, Gui T, Muragaki Y. The function of TRPS1 in the development and differentiation of bone, kidney, and hair follicles. Histol Histopathol. 2011 July;26(7):91521.
  4. de Barros GM, Kakehasi AM. Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I. Rev Bras Reumatol Engl Ed. 2016 Jan 1;56(1):869. DOI: 10.1016/j.rbre.2014.08.017
  5. Chen L, Ning C, Chao S. Mutations in TRPS1 gene in trichorhinophalangeal syndrome type I in Asian patients. Br J Dermatol. 2010 Aug 1;163(2):4169. DOI: 10.1111/j.1365-2133.2010.09802.x
  6. Fernandez JM, Santolaya JM, Sadaba F, Areitio E, Alvaro LC, Cortina C. Basilar impression and syringomyelia in a patient with tricho-rhino-phalangeal syndrome type I. Clin Genet. 1993;43(6):3245. DOI: 10.1111/j.1399-0004.1993.tb03829.x
  7. Lüdecke HJ, Schaper J, Meinecke P, Momeni P, Groß S, von Holtum D, et al. Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III. Am J Hum Genet. 2001 Jan 1;68(1):8191. DOI: 10.1086/316926
  8. Shenoy VS, Munakomi S, Sampath R. Syringomyelia. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2025 [cited 2025 July 6]. Available from: http://www.ncbi.nlm.nih.gov/books/NBK537110/.
  9. Hwang YS, Lee SH, Jo S, Chung SJ. Syringomyelia Manifesting With Pseudodystonia: A Case Report. J Mov Disord. 2022 May;15(2):1757. DOI: 10.14802/jmd.21121
  10. Nogués MA, Leiguarda RC, Rivero AD, Salvat F, Manes F. Involuntary movements and abnormal spontaneous EMG activity in syringomyelia and syringobulbia. Neurology. 1999 Mar;52(4):823823. DOI: 10.1212/WNL.52.4.823
  11. Mulroy E, Balint B, Latorre A, Schreglmann S, Menozzi E, Bhatia KP. Syringomyelia-Associated Dystonia: Case Series, Literature Review, and Novel Insights. Mov Disord Clin Pract. 2019 May 3;6(5):38792. DOI: 10.1002/mdc3.12772
  12. Corp DT, Joutsa J, Darby RR, Delnooz CCS, van de Warrenburg BPC, Cooke D, et al. Network localization of cervical dystonia based on causal brain lesions. Brain. 2019 June;142(6):166074. DOI: 10.1093/brain/awz112
  13. Jinnah HA, Hess EJ. A new twist on the anatomy of dystonia. Neurology. 2006 Nov 28;67(10):17401. DOI: 10.1212/01.wnl.0000246112.19504.61
  14. Mazzucchi S, Unti E, Frosini D, Baldacci F, Ceravolo R. Head tremor as a warning symptom of rapidly progressive syringomyelia: a case report. Neurol Sci Off J Ital Neurol Soc Ital Soc Clin Neurophysiol. 2018 Aug;39(8):14979. DOI: 10.1007/s10072-018-3315-4
  15. Martínez-Lage JF, Ruiz-Espejo A, Guillén-Navarro E, Almagro MJ. Posterior fossa arachnoid cyst, tonsillar herniation, and syringomyelia in trichorhinophalangeal syndrome Type I. Journal of Neurosurgery. 2008 Oct 1 [cited 2025 July 6]. Available from: https://thejns.org/view/journals/j-neurosurg/109/4/article-p746.xml.
  16. Perruchoud D, Murray MM, Lefebvre J, Ionta S. Focal dystonia and the Sensory-Motor Integrative Loop for Enacting (SMILE). Front Hum Neurosci. 2014 June 20;8:458. DOI: 10.3389/fnhum.2014.00458
  17. Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, et al. Dystonia. Nat Rev Dis Primer. 2018 Sept 20;4(1):25. DOI: 10.1038/s41572-018-0023-6
  18. Eshetu T, Meoded A, Jallo GI, Carson BS, Huisman TA, Poretti A. Diffusion tensor imaging in pediatric Chiari type I malformation. Dev Med Child Neurol. 2014;56(8):7428. DOI: 10.1111/dmcn.12494
  19. Natarajan P, Koupourtidou C, de Resseguier T, Thorwirth M, Bocchi R, Fischer-Sternjak J, et al. Single Cell Deletion of the Transcription Factors Trps1 and Sox9 in Astrocytes Reveals Novel Functions in the Adult Cerebral Cortex. Glia. 2025 Apr;73(4):73758. DOI: 10.1002/glia.24645
DOI: https://doi.org/10.5334/tohm.1116 | Journal eISSN: 2160-8288
Language: English
Submitted on: Oct 18, 2025
|
Accepted on: Dec 19, 2025
|
Published on: Dec 31, 2025
Published by: Ubiquity Press
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year

© 2025 Bogdana Petko, Brent D. Weinberg, Jaime Vengoechea, Matthew Gary, Paul A. Beach, published by Ubiquity Press
This work is licensed under the Creative Commons Attribution 4.0 License.