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.
|
Nystagmus
Dysarthria Dysarthria (ictal) Gait ataxia Visual blurring Ataxia (ictal) -Visual blurring (ictal) Nystagmus (interictal) Ataxia Show more (+6) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
AUS
|
15
|
58
|
n.a.
|
Dysarthria
Ataxia (interictal) Ataxia, limb Dysarthria (ictal) Heat trigger Dysarthria (interictal) Ataxia, limb (ictal) -Limb ataxia (interictal) -Gait ataxia (ictal) Ataxia (ictal) Gait ataxia Ataxia Physical stress trigger Show more (+10) |
n.a.
|
|
No
|
♂
|
n.a.
|
AUS
|
55
|
87
|
n.a.
|
Dysarthria
Nystagmus Ataxia Dysarthria (ictal) Nystagmus (interictal) Physical stress trigger Ataxia (ictal) Show more (+4) |
n.a.
|
|
No
|
♀
|
n.a.
|
AUS
|
16
|
33
|
n.a.
|
n.a.
|
||
No
|
♂
|
n.a.
|
AUS
|
n.a.
|
30
|
n.a.
|
Gait ataxia
Ataxia Ataxia (ictal) Ataxia, limb (ictal) Ataxia, limb Physical stress trigger Show more (+3) |
n.a.
|