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