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