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