Frequency of main clinical features in carriers of Cav2.1 truncating/disrupting (TR) mutations reported in the literature, and comparison with those found in carriers of non-truncating/disrupting (NTR) mutations in the present work
| Features | Patients with Cav 2.1 mutations | NTR | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| TR | |||||||||||
| Ref15 | Ref16† | Ref17 | Ref5 | Ref18 | Ref19 | Ref20 | Total† | % | Our study | % | |
| Only studies with a detailed description of the clinical phenotype were taken into consideration. *Mean±SE in years; †the exact number of patients showing a specific symptom could not always be reconstructed, this particularly referring to one patient and the frequency with and without him/her is reported; ‡VA, visual anomalies include oscillopsia, blurred vision, dyplopia; NT, not tested; ?, data not reported; NV, nausea and vomiting. | |||||||||||
| Patients (number) | 1 | 20 | 15 | 1 | 2 | 3 | 1 | 43 | 11 | ||
| Families (number) | 1 | 6 | 1 | 1 | 2 | 3 | 1 | 15 | 5 | ||
| Age* | 38 | 40 | 36 | ? | 36 | 31 | 41 | 38 | 41±3 | ||
| Age at onset (range)* | 1(1) | 10(2–19) | 10(8–15) | 8(8) | 1.5(1.5) | 3.5(2–5) | 10 | 9(1–19) | 17±2(8–28) | ||
| Episodes | 1/1 | 16/20 | ? | 1/1 | 2/2 | 3/3 | 1/1 | 24/28 | 0.8 | 8/11 | 0.7 |
| ataxia | 1/1 | 13/20 | ? | 1/1 | 2/2 | 3/3 | 1/1 | 21/28 | 0.7 | 5/11 | 0.5 |
| NV | 1/1 | 9–10/20 | ? | 0/1 | 1/2 | 2/3 | 1/1 | 14–15/28 | 0.5 | 4/11 | 0.4 |
| Vertigo | 0/1 | 7–8/20 | ? | 0/1 | 2/2 | 1/3 | 0/1 | 10–11/28 | 0.4 | 5/11 | 0.5 |
| VA‡ | 0/1 | 4/20 | ? | 1/1 | 2/2 | 1/3 | 0/1 | 8/28 | 0.3 | 3/11 | 0.3 |
| Headache | 0/1 | 6–7/20 | 11/15 | 1/1 | 2/2 | 1/3 | 0/1 | 21–22/43 | 0.5 | 5/11 | 0.5 |
| Dysarthria | 1/1 | 8–9/20 | ? | 0/1 | 1/2 | 0/3 | 0/1 | 10–11/28 | 0.4 | 5/11 | 0.5 |
| Response to acetazolamide | 1/1 | ? | 7/8 | NT | 1/2 | 2/3 | 1/1 | 12/15 | 0.8 | 5/5 | 1.0 |
| Interictal signs | |||||||||||
| Cerebellar ataxia | 1/1 | 12/19 | 10/14 | 1/1 | 1/2 | 2/3 | 0/1 | 27/41 | .7 | 8/11 | 0.7 |
| Nystagmus | 1/1 | 13/19 | 13/15 | 1/1 | 2/2 | 2/3 | 1/1 | 33/42 | 0.8 | 11/11 | 1.0 |
| Atrophy at MRI | 0/1 | 2/4 | 3/3 | 0/1 | ? | ? | 0/1 | 5/10 | 0.5 | 6/6 | 1.0 |
| Extracerebellar | 0/1 | 10/20 | 0/15 | 1/1 | 0/2 | 1/3 | 0/1 | 12/43 | 0.3 | 3/11 | 0.3 |
| Cognitive | 0/1 | 9/20 | 0/15 | 1/1 | 0/2 | 1/3 | 0/1 | 11/43 | 0.3 | 1/11 | .1 |