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