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