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