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