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