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