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Familial "Diplegic" Migraine – Description of a Family With a Novel CACNA1A Mutation.

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Title: Familial "Diplegic" Migraine – Description of a Family With a Novel CACNA1A Mutation.
Authors: Sprouse Blum, Adam S., Couperus, Cody J., Rosen, Brian J., Haskin‐Leahy, Leanne F., Shapiro, Robert E.
Source: Headache: The Journal of Head & Face Pain. Mar2020, Vol. 60 Issue 3, p600-606. 7p. 2 Diagrams.
Subjects: Genetic disorder diagnosis, Hemiplegia, Interviewing, Research methodology, Migraine, Motor neuron diseases, Genetic mutation, Phenotypes, Genotypes
Abstract: Objective: To characterize phenotypes of a novel CACNA1A mutation causing familial hemiplegic migraine type 1. Background: Familial hemiplegic migraine is a rare monogenic form of migraine associated with attacks of fully reversible unilateral motor weakness. We now report a novel CACNA1A gene mutation associated with fully reversible bilateral motor weakness (diplegia). Methods: The proband underwent genotyping which identified a novel CACNA1A missense mutation (c.622 [isoform 1] G > A [p.Gly208Arg]). To characterize phenotypes associated with this novel mutation, the proband and 8 of her similarly affected family members underwent a semi‐structured interview. Results: All 9 subjects who were interviewed met ICHD‐3 phenotypic diagnostic criteria for FHM, including reporting attacks with reversible unilateral motor weakness. Additionally, 7 of 9 subjects reported attacks including reversible motor weakness affecting both sides of the body simultaneously. Conclusions: We describe a novel CACNA1A mutation associated with migraine attacks including reversible diplegia. [ABSTRACT FROM AUTHOR]
Copyright of Headache: The Journal of Head & Face Pain is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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Header DbId: pbh
DbLabel: Psychology and Behavioral Sciences Collection
An: 141996845
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PubType: Academic Journal
PubTypeId: academicJournal
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  Data: Familial "Diplegic" Migraine – Description of a Family With a Novel CACNA1A Mutation.
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  Data: <searchLink fieldCode="AR" term="%22Sprouse+Blum%2C+Adam+S%2E%22">Sprouse Blum, Adam S.</searchLink><br /><searchLink fieldCode="AR" term="%22Couperus%2C+Cody+J%2E%22">Couperus, Cody J.</searchLink><br /><searchLink fieldCode="AR" term="%22Rosen%2C+Brian+J%2E%22">Rosen, Brian J.</searchLink><br /><searchLink fieldCode="AR" term="%22Haskin‐Leahy%2C+Leanne+F%2E%22">Haskin‐Leahy, Leanne F.</searchLink><br /><searchLink fieldCode="AR" term="%22Shapiro%2C+Robert+E%2E%22">Shapiro, Robert E.</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22Headache%3A+The+Journal+of+Head+%26+Face+Pain%22">Headache: The Journal of Head & Face Pain</searchLink>. Mar2020, Vol. 60 Issue 3, p600-606. 7p. 2 Diagrams.
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  Data: <searchLink fieldCode="DE" term="%22Genetic+disorder+diagnosis%22">Genetic disorder diagnosis</searchLink><br /><searchLink fieldCode="DE" term="%22Hemiplegia%22">Hemiplegia</searchLink><br /><searchLink fieldCode="DE" term="%22Interviewing%22">Interviewing</searchLink><br /><searchLink fieldCode="DE" term="%22Research+methodology%22">Research methodology</searchLink><br /><searchLink fieldCode="DE" term="%22Migraine%22">Migraine</searchLink><br /><searchLink fieldCode="DE" term="%22Motor+neuron+diseases%22">Motor neuron diseases</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+mutation%22">Genetic mutation</searchLink><br /><searchLink fieldCode="DE" term="%22Phenotypes%22">Phenotypes</searchLink><br /><searchLink fieldCode="DE" term="%22Genotypes%22">Genotypes</searchLink>
– Name: Abstract
  Label: Abstract
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  Data: Objective: To characterize phenotypes of a novel CACNA1A mutation causing familial hemiplegic migraine type 1. Background: Familial hemiplegic migraine is a rare monogenic form of migraine associated with attacks of fully reversible unilateral motor weakness. We now report a novel CACNA1A gene mutation associated with fully reversible bilateral motor weakness (diplegia). Methods: The proband underwent genotyping which identified a novel CACNA1A missense mutation (c.622 [isoform 1] G > A [p.Gly208Arg]). To characterize phenotypes associated with this novel mutation, the proband and 8 of her similarly affected family members underwent a semi‐structured interview. Results: All 9 subjects who were interviewed met ICHD‐3 phenotypic diagnostic criteria for FHM, including reporting attacks with reversible unilateral motor weakness. Additionally, 7 of 9 subjects reported attacks including reversible motor weakness affecting both sides of the body simultaneously. Conclusions: We describe a novel CACNA1A mutation associated with migraine attacks including reversible diplegia. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
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  Data: <i>Copyright of Headache: The Journal of Head & Face Pain is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=pbh&AN=141996845
RecordInfo BibRecord:
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        Value: 10.1111/head.13741
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      – Code: eng
        Text: English
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        PageCount: 7
        StartPage: 600
    Subjects:
      – SubjectFull: Genetic disorder diagnosis
        Type: general
      – SubjectFull: Hemiplegia
        Type: general
      – SubjectFull: Interviewing
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      – SubjectFull: Research methodology
        Type: general
      – SubjectFull: Migraine
        Type: general
      – SubjectFull: Motor neuron diseases
        Type: general
      – SubjectFull: Genetic mutation
        Type: general
      – SubjectFull: Phenotypes
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      – SubjectFull: Genotypes
        Type: general
    Titles:
      – TitleFull: Familial "Diplegic" Migraine – Description of a Family With a Novel CACNA1A Mutation.
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          Name:
            NameFull: Sprouse Blum, Adam S.
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            NameFull: Haskin‐Leahy, Leanne F.
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            NameFull: Shapiro, Robert E.
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              Text: Mar2020
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              Y: 2020
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              Value: 60
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