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