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