Rajakulendran, 2010: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
21
n.a.
n.a.
Nausea
Ataxia
Vomiting (ictal)
Vertigo
Vomiting
Seizures
Nausea (ictal)
Gait ataxia
-Gait ataxia (ictal)
Ataxia (ictal)
Vertigo (ictal)
Show more (+8)
Nausea
Vertigo
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Ataxia
Dysarthria
Ataxia (ictal)
Vertigo
Dysarthria (ictal)
Vertigo (ictal)
Show more (+3)
n.a.
Yes
n.a.
n.a.
8
n.a.
n.a.
Cognitive impairment
Ataxia
Ataxia (ictal)
-Gait ataxia (ictal)
Vomiting
Vomiting (ictal)
Seizures
Gait ataxia
Show more (+5)
Vomiting
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
51
n.a.
n.a.
Seizures
Vertigo
-Gait ataxia (ictal)
Nystagmus
Ataxia (ictal)
Diplopia
Nystagmus (interictal)
Diplopia (ictal)
Ataxia
Gait ataxia
Vertigo (ictal)
Show more (+8)
Vertigo
Diplopia
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
1
n.a.
n.a.
Ataxia (ictal)
Ataxia
Dysarthria
-Gait ataxia (interictal)
-Hemiplegia (interictal)
Dysarthria (interictal)
Seizures
Hemiplegia
Physical stress trigger
Gait ataxia
-Gait ataxia (ictal)
Dysarthria (ictal)
Show more (+9)
Dysarthria
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
2
n.a.
n.a.
Ataxia, limb (ictal)
Seizures
-Gait ataxia (ictal)
Gait ataxia
Ataxia
Dysarthria
Ataxia, limb
Dysarthria (ictal)
Ataxia (ictal)
Show more (+6)
Dysarthria
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Vomiting
Ataxia (ictal)
Seizures
Vertigo (ictal)
Vertigo
Ataxia
Vomiting (ictal)
Show more (+4)
n.a.
Yes
n.a.
n.a.
12
n.a.
n.a.
Vertigo
Physical stress trigger
Emotional stress trigger
Ataxia (ictal)
-Gait ataxia (ictal)
Vomiting (ictal)
Vertigo (ictal)
Nausea (ictal)
Ataxia
Fatigue (ictal)
Seizures
Nausea
Gait ataxia
Vomiting
Show more (+11)
Vertigo
Seizures
Yes
n.a.
n.a.
1
n.a.
n.a.
Tremor (any or unspecified)
Vomiting
Seizures
Vomiting (ictal)
-Gait ataxia (interictal)
-Tremor (interictal)
Ataxia (ictal)
-Gait ataxia (ictal)
Dysarthria
Ataxia
Dysarthria (interictal)
Hemiplegia
Dysarthria (ictal)
Gait ataxia
Show more (+11)
Seizures
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
1
n.a.
n.a.
Nausea (ictal)
Gait ataxia
Ataxia (ictal)
Headache (ictal)
Fatigue trigger
-Gait ataxia (ictal)
Vomiting (ictal)
Dysarthria (ictal)
Seizures
Nausea
Ataxia
Dysarthria
Cognitive impairment
Vomiting
Migraine (ictal)
Ataxia, limb
Ataxia, limb (ictal)
Headache
Physical stress trigger
Migraine
Show more (+17)
Nausea
Dysarthria
p.Glu921Asp: comp_het