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