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