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