1. Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.
- Author
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Paucar M, Bergendal Å, Gustavsson P, Nordenskjöld M, Laffita-Mesa J, Savitcheva I, and Svenningsson P
- Subjects
- Aged, Cerebral Cortex drug effects, Cognition Disorders diagnostic imaging, Cognition Disorders etiology, Family Health, Female, Fluorodeoxyglucose F18 pharmacokinetics, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Mutation genetics, Positron-Emission Tomography, Shal Potassium Channels genetics, Spinocerebellar Degenerations complications, Spinocerebellar Degenerations genetics, Young Adult, Cerebral Cortex diagnostic imaging, Cerebral Cortex metabolism, Glucose metabolism, Spinocerebellar Degenerations pathology
- Abstract
Spinocerebellar ataxia type 19 (SCA19), allelic with spinocerebellar ataxia type 22 (SCA22), is a rare syndrome caused by mutations in the KCND3 gene which encodes the potassium channel Kv4.3. Only 18 SCA19/22 families and sporadic cases of different ethnic backgrounds have been previously reported. As in other SCAs, the SCA19/22 phenotype is variable and usually consists of adult-onset slowly progressive ataxia and cognitive impairment; myoclonus and seizures; mild Parkinsonism occurs in some cases. Here we describe a Swedish SCA19/22 family spanning five generations and harboring the T377M mutation in KCND3. For the first time for this disease,
18 F-fluorodeoxyglucose PET was assessed revealing widespread brain hypometabolism. In addition, we identified white matter abnormalities and found unusual features for SCA19/22 including early age of onset and fast rate of progression in the late course of disease in the oldest patient of this family.- Published
- 2018
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