Table 2 Summary findings of 21 individuals with ITPR1 mutations and SCA29
Age (at last assessment) | ||
 1–3 years | 0/21 | (0%) |
 3–5 years | 5/21 | (24%) |
 5–12 years | 7/21 | (33%) |
 12–18 years | 4/21 | (19%) |
  > 18 years | 5/21 | (24%) |
Gender | ||
 Male | 9/21 | (43%) |
 Female | 12/21 | (57%) |
Symptoms at presentationa | ||
 Hypotonia | 8/21 | (38%) |
 Motor delay | 8/21 | (38%) |
 Global developmental delay | 3/21 | (11%) |
 Ataxia | 4/21 | (19%) |
 Poor ocular fixation | 2/21 | (10%) |
 Other | 12/21 | (57%) |
Disease course | ||
 Non-progressive | 20/21 | (95%) |
 Progressive | 1/21 | (5%) |
Development | ||
 Gross Motor Delay | 21/21 | (100%) |
 Fine Motor Delay | 19/19 | (100%) |
 Language Delay | 19/21 | (90%) |
 Social/Adaptive Delay | 9/19 | (47%) |
Cerebellar dysfunction | ||
 Nystagmus | 11/21 | (52%) |
 Saccadic Eye Movements | 7/16 | (44%) |
 Oculomotor Apraxia | 6/15 | (40%) |
 Dysmetria | 15/18 | (83%) |
 Dysarthria | 16/19 | (84%) |
 Dysdiadochokinesis | 11/16 | (69%) |
 Intention Tremor | 17/21 | (81%) |
 Gait Ataxia | 21/21 | (100%) |
 Hypotonia | 17/20 | (85%) |
 Cognitive Impairment | 17/20 | (85%) |
  Mild | 12/20 | (60%) |
  Moderate | 4/20 | (20%) |
  Severe | 0/20 | (0%) |
  Not graded | 3/20 | (15%) |
Neuroimaging | ||
 Findings |  |  |
  Cerebellar and/or vermis atrophy | 13/18 | (72%) |
  Other | 2/18 | (11%) |
  Normal | 3/18 | (17%) |
 Progressiveness |  |  |
  Progressive | 5/15 | (33%) |
  Non-progressive | 4/15 | (27%) |
  No serial | 6/15 | (40%) |