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