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