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