Skip to main content

Table 1 Demographic, genetic, and clinical characteristics of the study population

From: A 3-year cohort study of the natural history of spinocerebellar ataxia type 6 in Japan

  All patients Male patients Female patients
No. 46 23 23
Age at onset, y 48.0 ± 9.3 (31–66) 48.8 ± 10.0 47.2 ± 8.6
Age at registration, y 63.0 ± 9.6 (41–78) 64.4 ± 10.0 61.5 ± 9.2
Disease duration, y 15.0 ± 8.0 (3–40) 15.6 ± 7.5 14.3 ± 8.7
SARA score, points (Range, 0–40) 15.9 ± 7.1 (4–33) 18.2 ± 6.2 13.6 ± 7.3*
BI score, points (Range, 0–100) 77.4 ± 22.4 (15–100) 72.2 ± 23.0 82.6 ± 20.9
IDR-ICARS score, points (Range, 0–26) 14.8 ± 6.0 (5–26) 16.6 ± 5.6 13.1 ± 6.1*
IDR-BI score, points (Range, 0–55) 36.7 ± 15.1 (5–55) 33.5 ± 16.1 40.0 ± 13.7
CAG repeat length of the expanded CACNA1A allelea 23.2 ± 1.4 (21–27) 23.2 ± 1.3 23.3 ± 1.6
  1. Where applicable, the values are given as the mean ± standard deviation (range).
  2. Abbreviations: BI = Barthel Index; CACNA1A = alpha 1A P/Q type voltage-dependent calcium channel gene; CAG = cytosine-adenine-guanine; ICARS = International Cooperative Ataxia Rating Scale; IDR = Intractable Diseases Research; SARA = Scale for the Assessment and Rating of Ataxia.
  3. IDR-BI = total points of 6 items from the BI assessed by the IDR registry.
  4. IDR-ICARS = total points of 5 items from the ICARS assessed by the IDR registry.
  5. aThree patients are homozygous for the expanded allele (repeat lengths: 20, 22, and 24). The mean ± standard deviation was applied for 43 patients heterozygous for the expanded allele (22 male and 21 female patients).
  6. *The scores of female patients were significantly lower than those of male patients (P < .05, Mann–Whitney test).