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
-Dystonia (interictal) Dystonia (any or unspecified) Cerebellar atrophy Ataxia Emotional stress trigger Dysarthria (ictal) Ataxia (ictal) Nystagmus (interictal) Nystagmus 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.
|
Dystonia (any or unspecified)
Dysarthria (interictal) Vertigo (ictal) Physical stress trigger Dysarthria Gait ataxia Caffeine trigger Alcohol trigger Vertigo Ataxia (ictal) Ataxia, limb Ataxia (interictal) Ataxia Nystagmus Diplopia (ictal) -Dystonia (interictal) Diplopia Dysarthria (ictal) Show more (+15) |
n.a.
|