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