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.
Vomiting
Nausea
Ataxia
Vomiting (ictal)
Seizures
Vertigo
-Gait ataxia (ictal)
Gait ataxia
Nausea (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
Vertigo (ictal)
Ataxia (ictal)
Dysarthria
Dysarthria (ictal)
Vertigo
Show more (+3)
n.a.
Yes
n.a.
n.a.
8
n.a.
n.a.
Gait ataxia
Vomiting (ictal)
Ataxia (ictal)
Cognitive impairment
-Gait ataxia (ictal)
Seizures
Ataxia
Vomiting
Show more (+5)
Vomiting
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
51
n.a.
n.a.
Vertigo (ictal)
Diplopia (ictal)
Gait ataxia
Seizures
Ataxia
Diplopia
-Gait ataxia (ictal)
Nystagmus
Nystagmus (interictal)
Ataxia (ictal)
Vertigo
Show more (+8)
Diplopia
Vertigo
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
1
n.a.
n.a.
Dysarthria
-Gait ataxia (interictal)
Dysarthria (interictal)
Hemiplegia
-Hemiplegia (interictal)
-Gait ataxia (ictal)
Ataxia
Ataxia (ictal)
Seizures
Gait ataxia
Dysarthria (ictal)
Physical stress trigger
Show more (+9)
Dysarthria
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
2
n.a.
n.a.
Dysarthria
-Gait ataxia (ictal)
Ataxia (ictal)
Ataxia, limb (ictal)
Seizures
Ataxia, limb
Ataxia
Gait ataxia
Dysarthria (ictal)
Show more (+6)
Dysarthria
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
n.a.
n.a.
n.a.
Vomiting (ictal)
Ataxia (ictal)
Seizures
Vertigo (ictal)
Vomiting
Vertigo
Ataxia
Show more (+4)
n.a.
Yes
n.a.
n.a.
12
n.a.
n.a.
Gait ataxia
Vomiting
Nausea (ictal)
Vertigo (ictal)
Fatigue (ictal)
Nausea
-Gait ataxia (ictal)
Ataxia
Vomiting (ictal)
Vertigo
Physical stress trigger
Emotional stress trigger
Ataxia (ictal)
Seizures
Show more (+11)
Vertigo
Seizures
Yes
n.a.
n.a.
1
n.a.
n.a.
Vomiting (ictal)
Tremor (any or unspecified)
-Gait ataxia (ictal)
-Gait ataxia (interictal)
Vomiting
Dysarthria
Gait ataxia
Ataxia (ictal)
Seizures
-Tremor (interictal)
Hemiplegia
Dysarthria (ictal)
Ataxia
Dysarthria (interictal)
Show more (+11)
Seizures
p.Glu921Asp: comp_het
Yes
n.a.
n.a.
1
n.a.
n.a.
Ataxia
Nausea (ictal)
Ataxia, limb
Vomiting (ictal)
-Gait ataxia (ictal)
Migraine (ictal)
Migraine
Ataxia, limb (ictal)
Dysarthria
Nausea
Vomiting
Seizures
Headache
Ataxia (ictal)
Physical stress trigger
Gait ataxia
Cognitive impairment
Headache (ictal)
Fatigue trigger
Dysarthria (ictal)
Show more (+17)
Dysarthria
Nausea
p.Glu921Asp: comp_het