Wada, 2002: Overview of all reported PxMD-CACNA1A patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
A
JPN
7
13
n.a.
Cerebellar atrophy
Vomiting
Ataxia (interictal)
Muscle weakness
Coma
Headache
Gait ataxia
-Gait ataxia (interictal)
Hemiplegia
Ataxia
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n.a.
Yes
A
JPN
4
8
n.a.
Dysarthria
-Hemiplegia (ictal)
Migraine
Hemiplegia
Ataxia (interictal)
Vomiting
-Gait ataxia (interictal)
Muscle weakness
-Limb ataxia (interictal)
Ataxia
Gait ataxia
Muscular hypotonia
Migraine (ictal)
Dystonia (any or unspecified)
Nystagmus (interictal)
Muscular hypotonia (interictal)
-Dystonia (ictal)
Nystagmus
Ataxia (ictal)
Ataxia, limb
Dysarthria (interictal)
Dysarthria (ictal)
Vomiting (ictal)
Cerebellar atrophy
-Muscle weakness (ictal)
Coma
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n.a.
No
A
JPN
n.a.
n.a.
n.a.
Dysarthria
Ataxia (interictal)
Ataxia
Gait ataxia
Show more (+1)
n.a.
No
A
JPN
18
37
n.a.
Headache
Ataxia (interictal)
-Gait ataxia (interictal)
Gait ataxia
Cerebellar atrophy
Dysarthria (interictal)
Ataxia
Dysarthria
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n.a.
No
A
JPN
30
66
n.a.
Gait ataxia
Dysarthria (interictal)
Headache
Ataxia
Ataxia (interictal)
-Gait ataxia (interictal)
Coma
Cerebellar atrophy
Dysarthria
Hemiplegia
Show more (+7)
n.a.