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