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