Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Familial hemiplegic migraine type 1 associated with parkinsonism: a case report

Publikation: Bidrag til tidsskriftTidsskriftartikelForskning

Harvard

APA

CBE

MLA

Vancouver

Author

Bibtex

@article{0c1f337190074de59691f14393ef57f3,
title = "Familial hemiplegic migraine type 1 associated with parkinsonism: a case report",
abstract = "Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission computed tomography demonstrated a decreased DAT-binding potential in the putamen. We wish to draw attention to FHM1 associated with parkinsonism; however, whether the reported case is a consequence of FHM1 being allelic to SCA6, unknown modifiers to the specific R583Q CACNA1A mutation or idiopathic Parkinson's disease remains unanswered.",
author = "Marie Bruun and Hjermind, {Lena Elisabeth} and Carsten Thomsen and Else Danielsen and Thomsen, {Lise Lykke} and Pinborg, {Lars Hageman} and Nastaran Khabbazbavani and Nielsen, {Joergen Erik}",
year = "2015",
month = may,
day = "15",
doi = "10.1159/000381827",
language = "English",
volume = "7",
pages = "84--9",
journal = "Case Reports in Neurology",
issn = "1662-680X",
publisher = "S.Karger AG",
number = "1",

}

RIS

TY - JOUR

T1 - Familial hemiplegic migraine type 1 associated with parkinsonism

T2 - a case report

AU - Bruun, Marie

AU - Hjermind, Lena Elisabeth

AU - Thomsen, Carsten

AU - Danielsen, Else

AU - Thomsen, Lise Lykke

AU - Pinborg, Lars Hageman

AU - Khabbazbavani, Nastaran

AU - Nielsen, Joergen Erik

PY - 2015/5/15

Y1 - 2015/5/15

N2 - Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission computed tomography demonstrated a decreased DAT-binding potential in the putamen. We wish to draw attention to FHM1 associated with parkinsonism; however, whether the reported case is a consequence of FHM1 being allelic to SCA6, unknown modifiers to the specific R583Q CACNA1A mutation or idiopathic Parkinson's disease remains unanswered.

AB - Familial hemiplegic migraine type 1 (FHM1), episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) are allelic disorders caused by mutations in the CACNA1A gene on chromosome 19p13. It is well described that FHM1 can present with cerebellar signs, but parkinsonism has not previously been reported in FHM1 or EA2 even though parkinsonism has been described in SCA6. We report a 63-year-old woman with FHM1 caused by an R583Q mutation in the CACNA1A gene, clinically presenting with migraine and permanent cerebellar ataxia. Since the age of 60 years, the patient also developed parkinsonism with rigidity, bradykinesia and a resting tremor. An MRI showed a normal substantia nigra, but a bilateral loss of substance in the basal ganglia, which is in contrast to the typically normal MRI in idiopathic Parkinson's disease. Dopamine transporter (DAT) imaging with single-photon emission computed tomography demonstrated a decreased DAT-binding potential in the putamen. We wish to draw attention to FHM1 associated with parkinsonism; however, whether the reported case is a consequence of FHM1 being allelic to SCA6, unknown modifiers to the specific R583Q CACNA1A mutation or idiopathic Parkinson's disease remains unanswered.

U2 - 10.1159/000381827

DO - 10.1159/000381827

M3 - Journal article

C2 - 25969684

VL - 7

SP - 84

EP - 89

JO - Case Reports in Neurology

JF - Case Reports in Neurology

SN - 1662-680X

IS - 1

ER -

ID: 45966992