Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19

作者：Paucar Martin; Bergendal Asa; Gustavsson Peter; Nordenskjold Magnus; Laffita Mesa Jose; Savitcheva Irina; Svenningsson Per

来源：Cerebellum, 2018, 17(4): 465-476.

DOI：10.1007/s12311-018-0927-4

• Spinocerebellar ataxia types 19 and 22
• KCND3
• Channelopathy
• [F-18] FDG PET
• White-matter abnormalities

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, F-18-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.

• 出版日期2018-8