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.
|
-Tremor (ictal)
Tremor (any or unspecified) Nystagmus Diplopia Vomiting Ataxia (ictal) Dysarthria (ictal) Gait ataxia -Gait ataxia (ictal) Nausea Muscle weakness -Gait ataxia (interictal) Dysarthria Ataxia Diplopia (ictal) -Muscle weakness (ictal) Nystagmus (ictal) Vomiting (ictal) Show more (+15) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
35
|
54
|
n.a.
|
Seizures
Dystonia (any or unspecified) Ataxia Nausea Physical stress trigger Visual blurring Myokymia -Gait ataxia (ictal) Vomiting Dysarthria Muscle weakness Nystagmus Migraine Headache Emotional stress trigger Hyperhidrosis Gait ataxia Ataxia (ictal) Show more (+15) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
5
|
16
|
n.a.
|
Vomiting
Muscle weakness -Gait ataxia (ictal) Ataxia Ataxia (ictal) Dysarthria Gait ataxia Migraine Nausea Show more (+6) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
12
|
47
|
n.a.
|
Vomiting
Ataxia (ictal) Dysarthria Gait ataxia Nausea Ataxia -Gait ataxia (ictal) Vertigo Show more (+5) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
4
|
25
|
n.a.
|
Diplopia
Muscle weakness Vertigo Ataxia Tremor (any or unspecified) Dysarthria Myokymia Ataxia (ictal) Emotional stress trigger Gait ataxia Physical stress trigger -Gait ataxia (ictal) Show more (+9) |
n.a.
|
|
No
|
♀
|
A
|
CHN
|
5
|
74
|
n.a.
|
Dysarthria
-Gait ataxia (ictal) Nystagmus Ataxia Myokymia Vomiting Ataxia (ictal) Gait ataxia Nausea Show more (+6) |
n.a.
|
|
No
|
♂
|
A
|
CHN
|
7
|
21
|
n.a.
|
Vertigo
Myokymia Ataxia (ictal) Gait ataxia Physical stress trigger Diplopia Hyperhidrosis Headache Ataxia -Gait ataxia (ictal) Dysarthria Tinnitus Show more (+9) |
n.a.
|