Krishnan, 2008: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♂
|
n.a.
|
AUS
|
7
|
n.a.
|
n.a.
|
Dysarthria
-Visual blurring (ictal) Nystagmus Ataxia (ictal) Nystagmus (interictal) Dysarthria (ictal) Gait ataxia Ataxia Visual blurring Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
AUS
|
15
|
58
|
n.a.
|
Ataxia (interictal)
-Limb ataxia (interictal) -Gait ataxia (ictal) Heat trigger Dysarthria (interictal) Dysarthria Dysarthria (ictal) Physical stress trigger Ataxia Ataxia (ictal) Ataxia, limb Ataxia, limb (ictal) Gait ataxia Show more (+10) |
n.a.
|
|
No
|
♂
|
n.a.
|
AUS
|
55
|
87
|
n.a.
|
Nystagmus (interictal)
Dysarthria (ictal) Physical stress trigger Ataxia (ictal) Nystagmus Dysarthria Ataxia Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
AUS
|
16
|
33
|
n.a.
|
n.a.
|
||
No
|
♂
|
n.a.
|
AUS
|
n.a.
|
30
|
n.a.
|
Ataxia
Physical stress trigger Ataxia, limb Ataxia (ictal) Ataxia, limb (ictal) Gait ataxia Show more (+3) |
n.a.
|