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