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