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