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