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