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