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