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