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.
|
Headache
Hypertonia Gait ataxia Vomiting (ictal) Hypertonia Nystagmus Nystagmus (interictal) Vomiting Nausea Ataxia (ictal) -Visual blurring (ictal) Vertigo Visual blurring Ataxia -Gait ataxia (ictal) -Gait ataxia (interictal) Nausea (ictal) Vertigo (ictal) Show more (+15) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
Saccadic smooth pursuit
Vomiting (ictal) -Limb ataxia (interictal) -Gait ataxia (interictal) Gait ataxia Nystagmus (interictal) Cognitive impairment Ataxia, limb Dysarthria Emotional stress trigger Nausea (ictal) Vertigo Nausea Vomiting Vertigo (ictal) Dysarthria (ictal) Physical stress trigger Nystagmus -Gait ataxia (ictal) Ataxia Ataxia (ictal) Show more (+18) |
Nystagmus
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
7
|
n.a.
|
n.a.
|
Nystagmus (interictal)
-Gait ataxia (ictal) Tinnitus Vomiting (ictal) Physical stress trigger Tinnitus (ictal) Ataxia (ictal) Nausea (ictal) Emotional stress trigger Depression Nausea Dysarthria Vomiting Ataxia Nystagmus Dysarthria (ictal) Gait ataxia Show more (+14) |
n.a.
|