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