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.
|
Muscle weakness
Vomiting (ictal) Nystagmus (interictal) -Gait ataxia (interictal) Dysarthria (interictal) Emotional stress trigger Physical stress trigger Nausea Cerebellar atrophy Headache Heat trigger Gait ataxia -Muscle weakness (ictal) Ataxia, limb Dysarthria -Limb ataxia (interictal) Ataxia Ataxia (interictal) Nystagmus Nausea (ictal) Headache (ictal) Vomiting Show more (+19) |
n.a.
|
|
No
|
♀
|
C
|
USA
|
12
|
50
|
n.a.
|
Headache (ictal)
Ataxia (interictal) Dysmetric saccades Slow saccades Square wave jerks Vertigo (ictal) -Gait ataxia (interictal) -Muscle weakness (ictal) Vomiting Ataxia Diplopia Nystagmus (interictal) Nausea (ictal) Ataxia, limb Muscle weakness Vertigo Heat trigger Emotional stress trigger Diplopia (ictal) Nausea Vomiting (ictal) -Limb ataxia (interictal) Nystagmus Gait ataxia Headache Show more (+22) |
n.a.
|
|
Yes
|
♀
|
C
|
USA
|
6
|
75
|
n.a.
|
Gait ataxia
Ataxia -Gait ataxia (interictal) Dysmetric saccades Dysarthria Emotional stress trigger Nystagmus (interictal) -Muscle weakness (ictal) Ataxia (ictal) Muscle weakness Vertigo (ictal) Dysarthria (interictal) Headache Heat trigger Square wave jerks Vertigo Sudden movment trigger -Limb ataxia (interictal) Nystagmus Headache (ictal) Ataxia (interictal) Slow saccades Ataxia, limb Show more (+20) |
n.a.
|
|
No
|
♂
|
C
|
USA
|
13
|
31
|
n.a.
|
Square wave jerks
Nausea Vomiting (ictal) Vomiting Dysmetric saccades -Muscle weakness (ictal) Vertigo Nausea (ictal) Muscle weakness Sudden movment trigger Heat trigger Slow saccades Emotional stress trigger Vertigo (ictal) Show more (+11) |
n.a.
|
|
No
|
♂
|
C
|
USA
|
7
|
51
|
n.a.
|
Nausea (ictal)
Ataxia, limb Caffeine trigger Gait ataxia Vertigo Nausea Nystagmus (interictal) Vertigo (ictal) Heat trigger Headache (ictal) Dysarthria Emotional stress trigger Vomiting (ictal) Ataxia -Gait ataxia (interictal) -Limb ataxia (interictal) Nystagmus Ataxia (interictal) Dysarthria (interictal) Headache Vomiting Show more (+18) |
n.a.
|
|
No
|
♂
|
C
|
USA
|
9
|
33
|
n.a.
|
Vertigo (ictal)
Heat trigger Headache Vomiting Nystagmus Headache (ictal) Muscle weakness Nystagmus (interictal) Vomiting (ictal) Nausea Nausea (ictal) -Muscle weakness (ictal) Emotional stress trigger Vertigo Show more (+11) |
n.a.
|
|
No
|
♂
|
C
|
USA
|
n.a.
|
45
|
n.a.
|
Ataxia (interictal)
Emotional stress trigger Vomiting Nystagmus Vertigo Gait ataxia Nystagmus (interictal) Vomiting (ictal) Nausea Ataxia -Gait ataxia (interictal) Headache (ictal) Nausea (ictal) Heat trigger Headache Vertigo (ictal) Show more (+13) |
n.a.
|