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