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