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