Spacey, 2005: 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.
5
52
n.a.
Emotional stress trigger
Dysarthria (ictal)
Cerebellar atrophy
Nystagmus (interictal)
Dystonia (any or unspecified)
-Dystonia (interictal)
Nystagmus
Dysarthria
Ataxia (ictal)
Ataxia
Show more (+7)
n.a.
No
♂
n.a.
n.a.
15
n.a.
n.a.
Ataxia
Ataxia (ictal)
Physical stress trigger
Emotional stress trigger
Show more (+1)
n.a.
p.Gln1561*: het
Yes
♂
n.a.
n.a.
35
64
n.a.
-Dystonia (interictal)
Physical stress trigger
Ataxia (interictal)
Ataxia
Gait ataxia
Dystonia (any or unspecified)
Alcohol trigger
Ataxia, limb
Nystagmus
Vertigo
Caffeine trigger
Dysarthria (interictal)
Diplopia (ictal)
Dysarthria (ictal)
Dysarthria
Vertigo (ictal)
Ataxia (ictal)
Diplopia
Show more (+15)
n.a.
p.Gln1561*: het