Bruun Marie, Hjermind Lena Elisabeth, Thomsen Carsten, Danielsen Else, Thomsen Lise Lykke, Pinborg Lars Hageman, Khabbazbavani Nastaran, Nielsen Joergen Erik
Neurogenetics Clinic, Danish Dementia Research Centre, University of Copenhagen, Copenhagen, Denmark.
NRU and Epilepsy Clinic, Department of Neurology, University of Copenhagen, Copenhagen, Denmark.
Case Rep Neurol. 2015 Apr 14;7(1):84-9. doi: 10.1159/000381827. eCollection 2015 Jan-Apr.
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.
家族性偏瘫型偏头痛1型（FHM1）、发作性共济失调2型（EA2）和脊髓小脑共济失调6型（SCA6）是由19号染色体p13上的CACNA1A基因突变引起的等位基因疾病。FHM1可出现小脑体征已被充分描述，但FHM1或EA2此前尚未有帕金森综合征的报道，尽管SCA6中有帕金森综合征的描述。我们报告了一名63岁女性，因CACNA1A基因R583Q突变导致FHM1，临床上表现为偏头痛和永久性小脑共济失调。自60岁起，该患者还出现了伴有强直、运动迟缓及静止性震颤的帕金森综合征。磁共振成像（MRI）显示黑质正常，但基底节区双侧实质缺失，这与特发性帕金森病典型的正常MRI表现不同。单光子发射计算机断层扫描的多巴胺转运体（DAT）成像显示壳核中DAT结合潜能降低。我们希望引起对与帕金森综合征相关的FHM1的关注；然而，所报告的病例是FHM1与SCA6等位基因的结果、特定R583Q CACNA1A突变的未知修饰因素还是特发性帕金森病，仍未得到解答。
