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