Hu, 2013: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
CHN
|
4
|
21
|
n.a.
|
Diplopia (ictal)
Tremor (any or unspecified) Nausea Ataxia Dysarthria -Tremor (ictal) Ataxia (ictal) -Gait ataxia (interictal) Vomiting Diplopia Dysarthria (ictal) -Gait ataxia (ictal) -Muscle weakness (ictal) Nystagmus (ictal) Nystagmus Vomiting (ictal) Muscle weakness Gait ataxia Show more (+15) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
35
|
54
|
n.a.
|
Nausea
Vomiting Ataxia Seizures Hyperhidrosis Headache Dystonia (any or unspecified) Myokymia Nystagmus Dysarthria Ataxia (ictal) -Gait ataxia (ictal) Migraine Emotional stress trigger Gait ataxia Visual blurring Physical stress trigger Muscle weakness Show more (+15) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
5
|
16
|
n.a.
|
Ataxia (ictal)
-Gait ataxia (ictal) Gait ataxia Nausea Migraine Ataxia Muscle weakness Dysarthria Vomiting Show more (+6) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
12
|
47
|
n.a.
|
Vomiting
Gait ataxia Vertigo Ataxia Nausea Ataxia (ictal) Dysarthria -Gait ataxia (ictal) Show more (+5) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
4
|
25
|
n.a.
|
Ataxia (ictal)
Physical stress trigger Emotional stress trigger Vertigo -Gait ataxia (ictal) Diplopia Tremor (any or unspecified) Dysarthria Gait ataxia Myokymia Muscle weakness Ataxia Show more (+9) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
5
|
74
|
n.a.
|
Dysarthria
Vomiting Gait ataxia -Gait ataxia (ictal) Ataxia (ictal) Myokymia Ataxia Nystagmus Nausea Show more (+6) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
7
|
21
|
n.a.
|
Dysarthria
Hyperhidrosis Tinnitus Myokymia Ataxia (ictal) Diplopia Vertigo -Gait ataxia (ictal) Gait ataxia Headache Physical stress trigger Ataxia Show more (+9) |
n.a.
|