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