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.
authors.affiliation: Neurogenetics Clinic, Danish Dementia Research Centre, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Marie
authors.initials: M
authors.lastname: Bruun
authors.affiliation: Neurogenetics Clinic, Danish Dementia Research Centre, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Lena Elisabeth
authors.initials: LE
authors.lastname: Hjermind
authors.affiliation: NRU and Epilepsy Clinic, Department of Neurology, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Carsten
authors.initials: C
authors.lastname: Thomsen
authors.affiliation: Department of Radiology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Else
authors.initials: E
authors.lastname: Danielsen
authors.affiliation: Department of Paediatrics, Copenhagen University Hospital, Herlev, Denmark.
authors.forename: Lise Lykke
authors.initials: LL
authors.lastname: Thomsen
authors.affiliation: NRU and Epilepsy Clinic, Department of Neurology, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Lars Hageman
authors.initials: LH
authors.lastname: Pinborg
authors.affiliation: Department of Neurology, Glostrup Hospital, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Nastaran
authors.initials: N
authors.lastname: Khabbazbavani
authors.affiliation: Neurogenetics Clinic, Danish Dementia Research Centre, University of Copenhagen, Copenhagen, Denmark.
authors.forename: Joergen Erik
authors.initials: JE
authors.lastname: Nielsen
keywords: CACNA1A; Episodic ataxia type 2; Familial hemiplegic migraine type 1; Parkinsonism; Spinocerebellar ataxia type 6