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