In:
Case Reports in Neurology, S. Karger AG, Vol. 7, No. 1 ( 2015-4-14), p. 84-89
Kurzfassung:
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 〈 i 〉 CACNA1A 〈 /i 〉 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 〈 i 〉 CACNA1A 〈 /i 〉 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 〈 i 〉 CACNA1A 〈 /i 〉 mutation or idiopathic Parkinson's disease remains unanswered.
Materialart:
Online-Ressource
ISSN:
1662-680X
Sprache:
Englisch
Verlag:
S. Karger AG
Publikationsdatum:
2015
ZDB Id:
2505302-4
