Objective: To study whether spinocerebellar ataxia type 6 (SCA6) patients have parkinsonism and striatal dopamine transporter (DAT) loss compared to gender- and age-matched healthy controls.

Background: As the prototype for "pure cerebellar ataxia", SCA6 is generally considered to manifest solely with cerebellar dysfunction without parkinsonism. However, parkinsonism and striatal DAT loss have been reported in a few small studies albeit without gender– and age-matched healthy controls. Replicating those studies with more patients and well-matched controls would have important clinical impact.

Methods: Twelve patients with ataxia and genetically confirmed SCA6 (6 male and 6 female, age 65.3 ± 11.2 years, pathogenic CAG repeat number 21-25), and eight gender- and age- matched healthy controls (5 male and 3 female, age 71.3 ± 8.6 years) were assessed during 2013-2015 using Unified Parkinson’s disease Rating Scale (UPDRS), Scale of the Assessment and Rating of Ataxia (SARA), and DaTSCAN.

Results: There was generalized bradykinesia but without resting tremor or rigidity in SCA6 patients, which excluded parkinsonism. There was no DAT loss in putamen and caudate on DaTSCAN by visual inspection in a blinded manner independently by the nuclear medicine specialist and movement disorder specialist (kappa value=1). Further quantitative analysis on posterior, anterior and total putamen, and caudate did not reveal significant DAT loss in SCA6 patients compared to the gender- and age-matched controls.

Conclusions: There is no parkinsonism or significant DAT loss in SCA6 patients compared to gender- and age- matched healthy controls.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/evaluation-of-parkinsonism-and-striatal-dopamine-transporter-loss-in-patients-with-spinocerebellar-ataxia-type-6/