Labrum, 2009: 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.
|
3
|
8
|
n.a.
|
Headache
-Gait ataxia (interictal) Ataxia -Limb ataxia (interictal) Gait ataxia Nausea (ictal) Ataxia, limb Ataxia (ictal) Nausea -Gait ataxia (ictal) Emotional stress trigger Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
39
|
n.a.
|
n.a.
|
Headache
Nystagmus (interictal) Square wave jerks Ataxia (ictal) Dysarthria Dysarthria (ictal) Gait ataxia -Gait ataxia (ictal) Ataxia Nystagmus Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
5
|
n.a.
|
n.a.
|
Vomiting (ictal)
Headache (ictal) Ataxia, limb Dysarthria (ictal) Vertigo (ictal) -Gait ataxia (ictal) Headache Nystagmus Vomiting Nystagmus (interictal) Ataxia, limb (ictal) Vertigo Ataxia Ataxia (ictal) Dysarthria Gait ataxia Square wave jerks -Gait ataxia (interictal) Show more (+15) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
n.a.
|
Dysarthria (ictal)
-Gait ataxia (ictal) Ataxia (ictal) Nausea Dysarthria Gait ataxia Nystagmus Nausea (ictal) Ataxia Emotional stress trigger Show more (+7) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
4
|
59
|
n.a.
|
-Gait ataxia (ictal)
Diplopia (ictal) Emotional stress trigger Dysarthria Headache (ictal) Headache Ataxia Ataxia (ictal) Dysarthria (ictal) Diplopia Nystagmus Fatigue trigger -Gait ataxia (interictal) Gait ataxia Ataxia, limb Nystagmus (interictal) Dysarthria (interictal) Show more (+14) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
10
|
n.a.
|
n.a.
|
Vertigo
Gait ataxia Vertigo (ictal) Nystagmus (ictal) Seizures Nystagmus Nausea (ictal) Ataxia Vomiting (ictal) Vomiting Ataxia, limb -Limb ataxia (interictal) -Gait ataxia (ictal) Nausea Ataxia (ictal) Cerebellar atrophy Show more (+13) |
n.a.
|
|
Yes
|
n.a.
|
n.a.
|
n.a.
|
2
|
n.a.
|
n.a.
|
Nystagmus (interictal)
-Gait ataxia (ictal) Ataxia Gait ataxia -Gait ataxia (interictal) Vomiting (ictal) Vomiting Nystagmus Ataxia (ictal) Show more (+6) |
n.a.
|