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