Kim, 2006: 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
|
KOR
|
15
|
55
|
n.a.
|
Ataxia
Emotional stress trigger Nystagmus (interictal) Physical stress trigger Dysarthria Ataxia, limb (ictal) Ataxia, limb Ataxia (ictal) Nystagmus -Visual blurring (ictal) Dysarthria (ictal) -Gait ataxia (ictal) Visual blurring Heat trigger Gait ataxia Nystagmus (ictal) Show more (+13) |
n.a.
|
|
No
|
♀
|
A
|
KOR
|
n.a.
|
31
|
n.a.
|
Dysarthria (ictal)
Nystagmus -Gait ataxia (ictal) Ataxia Gait ataxia Dysarthria Ataxia (ictal) Heat trigger Show more (+5) |
n.a.
|
|
No
|
♂
|
A
|
KOR
|
n.a.
|
29
|
n.a.
|
Heat trigger
Nystagmus -Gait ataxia (ictal) Dysarthria (ictal) Ataxia (ictal) Dysarthria Ataxia Gait ataxia Show more (+5) |
n.a.
|