Objective: Our aim is to report an atypical case of initial manifestation of spinocerebellar ataxia type 16, which showed migraine and mild ataxia with cerebellar atrophy.

Background: Autosomal recessive spinocerebellar ataxia (SCA) type 16 is caused by homozygous or compound heterozygous mutation in the STUB1 gene. It is a progressive neurologic disorder that is characterized by truncal and limb ataxia that cause gait instability and which is associated with cerebellar atrophy. Possible diagnoses about migraine and ataxia with cerebellar atrophy include episodic ataxia type 2, familial hemiplegic migraines and SCA type 6. Initial presenting migraine and mild ataxia with cerebellar atrophy have very rarely reported in middle-aged, genetically confirmed SCA type 16.

Method: Single case report.

Results: A 46-year-old woman referred to us due to cerebellar atrophy in brain MRI. Her neurological examination revealed migraine and mild ataxia with cerebellar atrophy, but she did not complain any other neurological symptoms without any inconvenience in daily life. But, further genetic testing revealed heterozygote variant, c.689_692del (p.Tyr230CysfsTer9) mutation of the STUB1 gene and eventually confirmed SCA type 16.

Conclusion: For now, we report for the first time rare initial manifestations of SCA type 16 presenting non-progressive migraine and mild ataxia with cerebellar atrophy. As like this case, if there are mild ataxia with cerebellar atrophy accompanied by migraine, it should be also considered diagnosis of SCA type 16, as well as episodic ataxia type 2, familial hemiplegic migraines and SCA type 6.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/atypical-spinocerebellar-ataxia-sca-type-16-as-initial-presenting-migraine-and-mild-ataxia-with-cerebellar-atrophy/