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