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