Tomlinson, 2016: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
n.a.
n.a.
6
39
n.a.
Physical stress trigger
Acute illness trigger
Ataxia
Emotional stress trigger
Sudden movment trigger
Ataxia (ictal)
Show more (+3)
n.a.
Yes
n.a.
n.a.
5
21
n.a.
Physical stress trigger
Ataxia (ictal)
Emotional stress trigger
Acute illness trigger
Sudden movment trigger
Ataxia
Show more (+3)
n.a.
p.Arg1819*: het
Yes
n.a.
n.a.
6
39
n.a.
Physical stress trigger
Emotional stress trigger
Sudden movment trigger
Ataxia (ictal)
Acute illness trigger
Ataxia
Show more (+3)
n.a.
No
n.a.
n.a.
4
40
n.a.
Ataxia (ictal)
Ataxia
Physical stress trigger
Sudden movment trigger
Emotional stress trigger
Acute illness trigger
Show more (+3)
n.a.
Yes
n.a.
n.a.
7
66
n.a.
Acute illness trigger
Ataxia
Emotional stress trigger
Sudden movment trigger
-Muscle weakness (ictal)
Ataxia (ictal)
Physical stress trigger
Muscle weakness
Show more (+5)
n.a.
No
n.a.
n.a.
8
34
n.a.
Sudden movment trigger
Muscle weakness
Emotional stress trigger
Acute illness trigger
Physical stress trigger
-Muscle weakness (ictal)
Ataxia
Ataxia (ictal)
Show more (+5)
n.a.
Yes
n.a.
n.a.
6
37
n.a.
Emotional stress trigger
Ataxia
Ataxia (ictal)
Sudden movment trigger
Acute illness trigger
Physical stress trigger
Show more (+3)
n.a.
Yes
n.a.
n.a.
5
48
n.a.
Ataxia (ictal)
Ataxia
Acute illness trigger
Physical stress trigger
Sudden movment trigger
Emotional stress trigger
Show more (+3)
n.a.