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