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.
c.978+1G>A: het
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.
c.978+1G>A: het
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.
c.978+1G>A: het
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.
c.978+1G>A: het
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.
c.978+1G>A: het
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.
c.978+1G>A: het
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.
c.978+1G>A: het