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