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