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