Table 3 Clinical Features
From: New CACNA1A deletions are associated to migraine phenotypes
Patients | Mutation | Present age (yrs) | Age of onset (years) | Migraine/headache Features | Frequency | Duration (h) | Cerebellar sign and symptoms | Other clinical features |
|---|---|---|---|---|---|---|---|---|
16/11 | del 41–43 | 17 | 14 | Hemiplegic migraine | 5/year | 12–48 | No cerebellar | No |
16/13 | del 41–44 | 42 | 12 | Hemiplegic migraine | 2/month | 1–2 | No cerebellar | Painful paresthesias and mild cognitive deficit |
124/11 | del 37–47 | 4 | 6 (months) | Hemiplegic migraine | 2/month | 2–3 | No cerebellar | Nystagmus, emiplegia, distonia |
72/12 | del 45–47 | 19 | 15 | Hemiplegic migraine | 6/year | 48–72 | No cerebellar | Mild cognitive deficit |
117/14 | del 46–47 | 39 | 33 | Hemiplegic migraine | 2/month | variable | No cerebellar | Muscle pain and fatigue, drop head, loss of deambulation |
12/15 | del 47 | 42 | 23 | Hemiplegic migraine | 10/year | variable | No cerebellar | No |
27/14 | del 47 | 16 | 20 | Hemiplegic migraine | 12/year | 48–72 h | No cerebellar | No |
118/14 | del 47 | 23 | 17 | Hemiplegic migraine | 2–3/month | 2–3 h | No cerebellar | No |
75/13 | del 47 | 13 | 9 | Hemiplegic migraine | 2–3/month | variable | No cerebellar | No |
187/12 | del 12–15 | 44 | 12 | Episodic ataxia (familiar) | 1–2/month | 2–3 h | Nystagmus in horizontal and vertical gaze and mild cerebellar signs | Monolateral neurosensory hearing loss |
106/16 | del 12–15 | 17 | 15 | Episodic ataxia (familiar) | 1–2/week | variable | Multidirectional gaze evoked nystagmus, dysdiadochokinesis, mild difficulty in tandem walking | Congenital stationary night blindness |
165/14 | del 47 | 6 | 1 | Episodic ataxia | 1/month | variable | No cerebellar | No |
195/12 | del 47 | 14 | 7 | MO | 2/month | variable | No cerebellar | No |
237/12 | del 47 | 60 | 8 | MA | 6/year | variable (10 min to 48–72 h) | No cerebellar | Multifocal leukoencephalopathy |
80/11 | del 47 | 38 | 9 | MO | 2–3/month | variable | No cerebellar | No |