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