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