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