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