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
|
Seizures
Dystonia (any or unspecified) Ataxia, limb -Dystonia (interictal) -Limb ataxia (interictal) Cognitive impairment (interictal) Ataxia Ataxia (ictal) Saccadic smooth pursuit Seizures (interictal) Cognitive impairment Show more (+8) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
29
|
32
|
n.a.
|
Diplopia (interictal)
-Limb ataxia (interictal) Diplopia -Gait ataxia (interictal) Ataxia Dysarthria Cerebellar atrophy Gait ataxia Ataxia (ictal) Dysarthria (interictal) Ataxia, limb Show more (+8) |
n.a.
|