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.
Heat trigger
Vomiting
-Muscle weakness (ictal)
Headache
Ataxia
Physical stress trigger
-Limb ataxia (interictal)
Vomiting (ictal)
-Gait ataxia (interictal)
Ataxia, limb
Gait ataxia
Ataxia (interictal)
Nausea (ictal)
Nausea
Nystagmus
Cerebellar atrophy
Headache (ictal)
Dysarthria
Nystagmus (interictal)
Dysarthria (interictal)
Emotional stress trigger
Muscle weakness
Show more (+19)
n.a.
c.978+1G>A: het
No
C
USA
12
50
n.a.
Headache (ictal)
-Muscle weakness (ictal)
Square wave jerks
Vomiting (ictal)
Nystagmus
Nausea (ictal)
Emotional stress trigger
Dysmetric saccades
Muscle weakness
Vertigo
Slow saccades
Nystagmus (interictal)
Ataxia (interictal)
Vomiting
Headache
-Gait ataxia (interictal)
Ataxia
Diplopia (ictal)
Ataxia, limb
Gait ataxia
Nausea
Diplopia
Heat trigger
Vertigo (ictal)
-Limb ataxia (interictal)
Show more (+22)
n.a.
c.978+1G>A: het
Yes
C
USA
6
75
n.a.
Dysarthria
Ataxia, limb
Ataxia (interictal)
-Muscle weakness (ictal)
Sudden movment trigger
Muscle weakness
Vertigo (ictal)
Dysarthria (interictal)
-Gait ataxia (interictal)
-Limb ataxia (interictal)
Nystagmus (interictal)
Nystagmus
Dysmetric saccades
Gait ataxia
Vertigo
Ataxia (ictal)
Headache (ictal)
Ataxia
Heat trigger
Emotional stress trigger
Headache
Slow saccades
Square wave jerks
Show more (+20)
n.a.
c.978+1G>A: het
No
C
USA
13
31
n.a.
Emotional stress trigger
Dysmetric saccades
Muscle weakness
Vertigo (ictal)
Vomiting
Nausea
Slow saccades
Vomiting (ictal)
Nausea (ictal)
Vertigo
Heat trigger
Square wave jerks
-Muscle weakness (ictal)
Sudden movment trigger
Show more (+11)
n.a.
c.978+1G>A: het
No
C
USA
7
51
n.a.
-Limb ataxia (interictal)
Dysarthria (interictal)
Vomiting
Dysarthria
Nystagmus (interictal)
Heat trigger
Gait ataxia
-Gait ataxia (interictal)
Nausea (ictal)
Caffeine trigger
Vertigo (ictal)
Headache
Vertigo
Ataxia (interictal)
Emotional stress trigger
Nausea
Ataxia, limb
Ataxia
Headache (ictal)
Vomiting (ictal)
Nystagmus
Show more (+18)
n.a.
c.978+1G>A: het
No
C
USA
9
33
n.a.
Nausea
Nausea (ictal)
Vertigo
Headache
-Muscle weakness (ictal)
Vomiting (ictal)
Headache (ictal)
Heat trigger
Vertigo (ictal)
Nystagmus (interictal)
Nystagmus
Muscle weakness
Emotional stress trigger
Vomiting
Show more (+11)
n.a.
c.978+1G>A: het
No
C
USA
n.a.
45
n.a.
Nausea
Nystagmus (interictal)
Vertigo (ictal)
Ataxia (interictal)
Heat trigger
Gait ataxia
Emotional stress trigger
Vomiting (ictal)
Vertigo
Headache (ictal)
Nausea (ictal)
Vomiting
Headache
Nystagmus
-Gait ataxia (interictal)
Ataxia
Show more (+13)
n.a.
c.978+1G>A: het