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