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