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