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