Objective: We report a patient of spinocerebellar ataxia type 2(SCA2)-parkinsonism family who developed oromandibular dystonia as the chief presentation.

Background: We previously described a Korean family of SCA2-parkinsonism, where genetic analysis revealed 40 CAG repeats in the ATXN2 gene. The affected members presented with typical parkinsonism without ataxia, resembling Parkinson disease (PD).

Methods: Clinical examination, imaging studies and familial genetic analysis were done.

Results: The patient presented to the clinic at age 58. He reported involuntary jaw opening that had persisted for 2 months. Sense of leg dragging and gait disturbance accompanied. There was no history of exposure to antipsychotics or other medications. On examination, oromandibular dystonia was prominent. Involuntary jaw opening, clenching and tongue protrusion continued. Systemic evaluation revealed mild degree of stooped posture and parkinsonian gait. Ataxia and EOM abnormality were absent. Genetic analysis for SCA2 showed ATXN2 expansion of 40 CAG repeats. Levodopa, anticholinergics, baclofen and clonazepam were not consistently effective for dystonia. He committed suicide at age 62. The other affected members showed typical PD without ataxia. Asymmetric resting tremor and bradykinesia developed over a slow course with good response to levodopa. Brain imaging showed no cerebellar atrophy. Fallypride PET showed relatively preserved striatal dopamine receptor densities while DAT imaging showed globally decreased dopamine transporter density in striatum, suggesting purely presynaptic parkinsonism like PD. None of the other affected members had oromandibular dystonia as in our patient of concern. The differential diagnosis would include Wilson’s disease, Lubag, Fahr disease and NBIA syndromes. Magnetic resonance imaging was unremarkable. CIT-PET showed globally decreased uptake in both putamina. However, his family history pointed toward SCA2, which was positive.

Conclusions: This is the first case of SCA2-parkinsonism that presented chiefly with oromandibular dystonia. This demonstrates that intrafamilial heterogeneity exists within the single SCA2-parkinsonism kindred. In the previous report of this family, we suggested SCA2-parkinsonism be considered in the workup of familial PD even without ataxia. This case contributes to broadening the indication of the workup. SCA2 may need to be studied in patients with oromandibular dystonia who have family history.

« Back to 2018 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/familial-sca2-parkinsonism-presented-as-intractable-oromandibular-dystonia/