We estimate that 44 CAG/CAA repeats is the minimum number required to cause SCA17. However, the existence of unaffected subjects with mildly expanded triplets suggests that the TBP gene mutation may not penetrate fully. Homozygosity of alleles with mildly expanded triplet repeats in the TBP gene might contribute to the pathologic phenotype.

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Associations between polymorphisms of the cystatin C gene (CST3) at 5' flanking region and exon 1 in Caucasian patients with late onset AD and exon 1 in a US study of late onset AD have been reported. Clinically diagnosed Japanese patients with AD and Japanese normal control subjects were assessed for the presence of polymorphisms of CST3. The authors could not confirm the previously reported association between CST3 polymorphisms and AD in Japan. Age had no effect on the CST3 genotype.

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Objective The purpose of this study was to determine whether increased alkaline phosphatase (ALP) was associated with early neurological deterioration (END) in patients with atherothrombotic brain infarction (ATBI) attributable to intracranial atherosclerosis (ICAS) or not. Methods We analyzed data derived from 70 patients (47 men; mean age, 72.4 ± 12.8 years) with symptomatic ICAS who were admitted within 3 days of ATBI onset between April 2013 and December 2018. We defined END as an increase of ≥2 in the National Institutes of Health Stroke Scale scores during the first 72 h of hospitalization. Results Eleven (15.7%) patients had END. Serum ALP levels on admission were significantly higher among patients with, than without END (median [interquartile range], 296 [233–338] vs. 216 [187–262] U/L, p = .0081). Conclusion Increased serum ALP levels on admission may be able to predict developing END in patients with symptomatic ICAS.