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