Subramony, 2003: Overview of all reported PxMD-CACNA1A patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
No
|
♀
|
C
|
USA
|
n.a.
|
77
|
n.a.
|
-Gait ataxia (interictal)
-Muscle weakness (ictal) Headache (ictal) Vomiting (ictal) Nausea (ictal) Nausea Vomiting Nystagmus Ataxia Ataxia, limb Nystagmus (interictal) Cerebellar atrophy -Limb ataxia (interictal) Dysarthria Physical stress trigger Emotional stress trigger Heat trigger Headache Dysarthria (interictal) Gait ataxia Ataxia (interictal) Muscle weakness Show more (+19) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
12
|
50
|
n.a.
|
Square wave jerks
Vertigo (ictal) Heat trigger Diplopia Ataxia, limb Gait ataxia Nausea Slow saccades Ataxia (interictal) Headache (ictal) -Gait ataxia (interictal) Diplopia (ictal) Emotional stress trigger Ataxia Vomiting Vertigo Muscle weakness Dysmetric saccades Nausea (ictal) Nystagmus (interictal) Headache Vomiting (ictal) -Muscle weakness (ictal) Nystagmus -Limb ataxia (interictal) Show more (+22) |
n.a.
|
|
Yes
|
♀
|
C
|
USA
|
6
|
75
|
n.a.
|
Ataxia
Ataxia (ictal) Vertigo -Muscle weakness (ictal) Ataxia (interictal) Heat trigger -Gait ataxia (interictal) Ataxia, limb Nystagmus Vertigo (ictal) Slow saccades Square wave jerks Muscle weakness Dysarthria Gait ataxia Headache -Limb ataxia (interictal) Sudden movment trigger Headache (ictal) Dysmetric saccades Dysarthria (interictal) Emotional stress trigger Nystagmus (interictal) Show more (+20) |
n.a.
|
|
No
|
♂
|
C
|
USA
|
13
|
31
|
n.a.
|
Square wave jerks
-Muscle weakness (ictal) Dysmetric saccades Vomiting Nausea (ictal) Vertigo (ictal) Heat trigger Vertigo Slow saccades Vomiting (ictal) Emotional stress trigger Sudden movment trigger Muscle weakness Nausea Show more (+11) |
n.a.
|
|
No
|
♂
|
C
|
USA
|
7
|
51
|
n.a.
|
Headache (ictal)
Ataxia, limb Dysarthria Vertigo (ictal) Ataxia Gait ataxia Vomiting (ictal) Nausea -Gait ataxia (interictal) Caffeine trigger Nystagmus Vomiting Vertigo Nystagmus (interictal) Headache Heat trigger Ataxia (interictal) Emotional stress trigger -Limb ataxia (interictal) Nausea (ictal) Dysarthria (interictal) Show more (+18) |
n.a.
|
|
No
|
♂
|
C
|
USA
|
9
|
33
|
n.a.
|
Vertigo
Muscle weakness Nausea Nausea (ictal) Nystagmus Emotional stress trigger Vertigo (ictal) Headache -Muscle weakness (ictal) Headache (ictal) Heat trigger Vomiting Vomiting (ictal) Nystagmus (interictal) Show more (+11) |
n.a.
|
|
No
|
♂
|
C
|
USA
|
n.a.
|
45
|
n.a.
|
Vertigo (ictal)
Nausea Ataxia (interictal) Headache (ictal) Emotional stress trigger Nystagmus Heat trigger Gait ataxia Ataxia -Gait ataxia (interictal) Vomiting Vomiting (ictal) Vertigo Nystagmus (interictal) Nausea (ictal) Headache Show more (+13) |
n.a.
|