Wan, 2011: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
n.a.
|
n.a.
|
8
|
n.a.
|
n.a.
|
Ataxia (ictal)
Gait ataxia -Gait ataxia (interictal) Hypertonia Nystagmus Hypertonia Nausea Vomiting Vertigo Nystagmus (interictal) Ataxia Headache -Gait ataxia (ictal) Vomiting (ictal) -Visual blurring (ictal) Visual blurring Vertigo (ictal) Nausea (ictal) Show more (+15) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
Nystagmus (interictal)
Cognitive impairment Physical stress trigger Nystagmus -Gait ataxia (interictal) Vertigo Vomiting -Limb ataxia (interictal) Nausea (ictal) Dysarthria (ictal) Saccadic smooth pursuit Ataxia (ictal) Vomiting (ictal) Vertigo (ictal) Ataxia Gait ataxia Dysarthria Emotional stress trigger -Gait ataxia (ictal) Nausea Ataxia, limb Show more (+18) |
Nystagmus
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
7
|
n.a.
|
n.a.
|
Vomiting (ictal)
Ataxia (ictal) Tinnitus Nausea (ictal) Ataxia Vomiting Depression Physical stress trigger Dysarthria Dysarthria (ictal) Gait ataxia Nystagmus (interictal) -Gait ataxia (ictal) Nausea Nystagmus Emotional stress trigger Tinnitus (ictal) Show more (+14) |
n.a.
|