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