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