CoChat
Sign Up
Cited by 361Migraine and Headache StudiesTraumatic Brain Injury ResearchTraumatic Brain Injury and Neurovascular Disturbances

Delayed cerebral edema and fatal coma after minor head trauma: Role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine

Kors, Esther E., Terwindt, Gisela M., Vermeulen, Frans L.M.G., Fitzsimons, Robin B., Jardine, Philip E., Heywood, Peter, Love, Seth, Van Den Maagdenberg, Arn M.J.M. +3 more·2001·Annals of Neurology
DOI 10.1002/ana.1031
Open this paper in CoChat — free account

Abstract

Trivial head trauma may be complicated by severe, sometimes even fatal, cerebral edema and coma occurring after a lucid interval ("delayed cerebral edema"). Attacks of familial hemiplegic migraine (FHM) can be triggered by minor head trauma and are sometimes accompanied by coma. Mutations in the CACNA1A calcium channel subunit gene on chromosome 19 are associated with a wide spectrum of mutation-specific episodic and chronic neurological disorders, including FHM with or without coma. We investigated the role of the CACNA1A gene in three subjects with delayed cerebral edema. Two subjects originated from a family with extreme FHM, and one subject was the previously asymptomatic daughter of a sporadic patient with hemiplegic migraine attacks. In all three subjects with delayed severe edema, we found a C-to-T substitution resulting in the substitution of serine for lysine at codon 218 (S218L) in the CACNA1A gene. The mutation was absent in nonaffected family members and 152 control individuals. Haplotype analysis excluded a common founder for both families. Neuropathological examination in one subject showed Purkinje cell loss with relative preservation of granule cells and sparing of the dentate and inferior olivary nuclei. We conclude that the novel S218L mutation in the CACNA1A calcium channel subunit gene is involved in FHM and delayed fatal cerebral edema and coma after minor head trauma. This finding may have important implications for the understanding and treatment of this dramatic syndrome.

Integrity signals

Registry

Crossref · 10.1002/ana.1031

Cites

38 of 38 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

This paper’s full text isn’t openly available, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

  • Several individuals with juvenile head trauma syndrome have been reported to have a mutation in the calcium channel subunit gene (CACNA1A) associated with familial hemiplegic migraine.

    “Several individuals with this juvenile head trauma syndrome have been reported to have a mutation in the calcium channel subunit gene (CACNA1A) associated with familial hemiplegic migraine [101].”

    From The neuropathology of sport (2014) · cites this paper as [101]

Cites

Flagged first, then by citations

1 of the 39 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

Related

Authors
Kors, E. E., Terwindt, G. M., Vermeulen, F. L. M. G., Fitzsimons, R. B., Jardine, P. E., Heywood, P., Love, S., Van Den Maagdenberg, A. M. J. M., Haan, J., Frants, R. R., & Ferrari, M. D.
Affiliations
  • Leiden University Medical Center (NL)
  • Frenchay Hospital (GB)
Corresponding author
Ferrari, Michel D.
ORCID
Venue
Annals of Neurology
Publisher
Wiley
Published
2001
Volume
49
Issue
6
Pages
753-760
ISSN
  • 0364-5134 (ISSN-L)
  • 1531-8249
DOI
10.1002/ana.1031
OpenAlex
W1986788837
Cited by
361
References
39
Citations by year
2026: 6 · 2025: 10 · 2024: 8 · 2023: 13 · 2022: 6 · 2021: 18 · 2020: 14 · 2019: 15 · 2018: 12 · 2017: 10 · 2016: 13 · 2015: 19 · 2014: 15 · 2013: 15 · 2012: 22
FWCI
8.37
Type
journal article
Language
en
Open access
closed
Licence
doi.wiley.com/10.1002/tdm_license_1.1 (tdm, 5356 d)
Locations
  • Annals of Neurology (publishedVersion)
  • PubMed (publishedVersion)
Topics
  • Health Sciences › Medicine › Psychiatry and Mental health › Migraine and Headache Studies
  • Health Sciences › Medicine › Epidemiology › Traumatic Brain Injury Research
  • Health Sciences › Medicine › Neurology › Traumatic Brain Injury and Neurovascular Disturbances
Keywords
mild traumatic brain injury, familial hemiplegic migraine, CACNA1A gene, P/Q-type calcium channels, Purkinje cell degeneration, genetic susceptibility
MeSH terms
Adolescent, Adult, Amino Acid Sequence, Australia, Brain Edema, Cerebellar Cortex, Child, Preschool, Coma, DNA Mutational Analysis, England, Female, Haplotypes, Craniocerebral Trauma, Heterozygote, Humans, Male, Molecular Sequence Data, Pedigree, Purkinje Cells, Calcium Channels, Polymorphism, Single-Stranded Conformational, Mutation, Missense, Migraine with Aura, Calcium Channels, N-Type, Protein Subunits

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review