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