Luo, 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.
|
n.a.
|
8
|
No
|
Cerebellar atrophy
Cognitive impairment (interictal) Ataxia (interictal) Cognitive impairment Muscular hypotonia Muscular hypotonia (interictal) Ataxia (ictal) Ataxia Show more (+5) |
n.a.
|
|
Yes
|
♂
|
C
|
n.a.
|
n.a.
|
5
|
No
|
-Gait ataxia (interictal)
Ataxia Dysarthria Cognitive impairment (interictal) Gait ataxia Cognitive impairment Muscular hypotonia (interictal) Muscular hypotonia Ataxia (interictal) Dysarthria (interictal) Show more (+7) |
n.a.
|
|
Yes
|
♀
|
H
|
n.a.
|
n.a.
|
5
|
No
|
Muscular hypotonia
Ataxia Cognitive impairment (interictal) Ataxia (interictal) Muscular hypotonia (interictal) Ataxia (ictal) Cognitive impairment Show more (+4) |
n.a.
|
|
Yes
|
♂
|
H
|
n.a.
|
n.a.
|
8
|
No
|
Muscular hypotonia (interictal)
Dysarthria Ataxia -Gait ataxia (interictal) Dysarthria (interictal) Cognitive impairment (interictal) Ataxia (interictal) Gait ataxia Muscular hypotonia Cognitive impairment Cerebellar atrophy Show more (+8) |
n.a.
|
|
Yes
|
♀
|
n.a.
|
n.a.
|
n.a.
|
6
|
No
|
Muscular hypotonia (interictal)
Muscular hypotonia Ataxia (interictal) Dysarthria Cognitive impairment Dysarthria (interictal) Ataxia Cognitive impairment (interictal) Show more (+5) |
n.a.
|