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