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