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