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