Travaglini, 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.
|
2
|
11
|
n.a.
|
Hemiplegia
Migraine Cerebellar atrophy -Hemiplegia (interictal) Ataxia (interictal) Ataxia Cognitive impairment (interictal) Cognitive impairment Show more (+5) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
0
|
5
|
n.a.
|
Ataxia (interictal)
Nystagmus (interictal) Ataxia Cognitive impairment (interictal) Hemiplegia -Tremor (interictal) Migraine Nystagmus Tremor (any or unspecified) Muscular hypotonia -Hemiplegia (interictal) Cerebellar atrophy Cognitive impairment Show more (+10) |
n.a.
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
9
|
n.a.
|
Muscular hypotonia
-Tremor (interictal) Muscular hypotonia (interictal) Ataxia (interictal) Cerebellar atrophy Seizures Cognitive impairment (interictal) -Hemiplegia (interictal) Dysarthria Ataxia Dysarthria (interictal) Tremor (any or unspecified) Cognitive impairment Seizures (interictal) Hemiplegia Migraine Show more (+13) |
Muscular hypotonia
|
|
Yes
|
♂
|
n.a.
|
n.a.
|
1
|
4
|
n.a.
|
Cognitive impairment
Seizures (interictal) Muscular hypotonia (interictal) Tremor (any or unspecified) Ataxia Muscular hypotonia -Tremor (interictal) Cognitive impairment (interictal) Cerebellar atrophy Ataxia (interictal) Seizures Show more (+8) |
Seizures
|