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