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