Objective: We present a rare case of Spinocerebellar Ataxia 34 (SCA 34) in a Vietnamese patient.

Background: SCA 34 is a subtype of Spinocerebellar Ataxia characterized by ataxia, dysarthria and skin manifestations commonly, papulosquamous ichtyosiform plaques. Mutations in the ELOVL4 gene have been linked to SCA 34. This case contributes to the limited literature on the phenotypic variability associated with this particular mutation in the ELOVL4 gene.

Method: A 49-year-old woman presented with progressively worsening gait imbalance since age 32. She has been experiencing recurrent falls and bilateral hand tremors compromising manual dexterity. Her mother also had similar symptoms. Physical examination revealed scanning dysarthria, square wave jerks, and horizontal hypometric saccades alongside a coarse vertical nystagmus. The patient displayed impaired performance in finger-nose testing, overshooting intended targets. Rapid sequential movements exhibited mild slowing. Heel-to-shin coordination was bilaterally impaired. The patient’s gait was wide-based with impaired ability to tandem. Generalized hyperreflexia was evident, marked by a positive bilateral Hoffman’s sign. Vibration in the lower extremities was reduced. There was no skin changes.

Results: Brain MRI revealed cerebellar atrophy while MRI of the cervical spine showed evidence of mild canal stenosis without intrinsic cord signal or atrophy.  Genetic testing yielded a mutation in the ELOVL4 gene (c.512 T>C, p.I171T). The mutation found in our patient was described in an American family with the disease [1]. In this family, certain individuals had retinitis pigmentosa along with the other cerebellar symptoms.

Conclusion: This case emphasizes the importance of considering genetic testing in patients with progressive ataxia. The mutation (c.512 T>C, p.I171T) associated with SCA 34 was identified in our patient of Vietnamese descent, confirming the need for screening patients with family history of ataxia for these mutations. Our case is the second reported case of a different lineage with a SCA 34 mutation.

References: [1] C. Xiao et al., “A family with spinocerebellar ataxia and retinitis pigmentosa attributed to an ELOVL4 mutation.,” Neurol Genet, vol. 5, no. 5, p. e357, Oct. 2019, doi: 10.1212/NXG.0000000000000357.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/spinocerebellar-ataxia-34-elovl4-recurrent-mutation-in-a-different-family/