Balck, 2017: 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.
|
0
|
17
|
No
|
Dystonia (any or unspecified)
Seizures (interictal) Ataxia Ataxia (ictal) Cognitive impairment (interictal) Cognitive impairment Ataxia, limb Saccadic smooth pursuit -Dystonia (interictal) Seizures -Limb ataxia (interictal) Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
29
|
32
|
n.a.
|
Gait ataxia
Ataxia, limb Ataxia Cerebellar atrophy Dysarthria (interictal) -Gait ataxia (interictal) Dysarthria Ataxia (ictal) Diplopia (interictal) -Limb ataxia (interictal) Diplopia Show more (+8) |
n.a.
|