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