Scoggan, 2001: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
♂
C
n.a.
2
29
n.a.
Ataxia, limb
Nystagmus (ictal)
Nausea (ictal)
Ataxia (ictal)
Ataxia
Vertigo
Nausea
Vertigo (ictal)
Gait ataxia
Vomiting
Dysarthria (ictal)
Headache (ictal)
Vomiting (ictal)
-Gait ataxia (interictal)
-Muscle weakness (ictal)
Ataxia, limb (ictal)
Headache
Dysarthria
Nystagmus
Muscle weakness
Show more (+17)
n.a.
p.Ser940Glnfs*128: comp_het
Yes
♀
n.a.
n.a.
14
43
n.a.
Nystagmus
Emotional stress trigger
Diplopia
Physical stress trigger
Diplopia (interictal)
Ataxia (ictal)
Ataxia, limb (ictal)
Headache (interictal)
Ataxia, limb
Headache
Nystagmus (interictal)
Ataxia
Show more (+9)
n.a.