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.
Gait ataxia
Vomiting
Ataxia
Muscle weakness
Headache
-Gait ataxia (interictal)
Coma
Hemiplegia
Ataxia (interictal)
Cerebellar atrophy
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n.a.
Yes
A
JPN
4
8
n.a.
Ataxia (ictal)
-Gait ataxia (interictal)
Muscular hypotonia (interictal)
Nystagmus
Nystagmus (interictal)
-Muscle weakness (ictal)
Ataxia (interictal)
Dysarthria (interictal)
Hemiplegia
Coma
Vomiting (ictal)
Gait ataxia
Dysarthria (ictal)
Dystonia (any or unspecified)
Ataxia
Vomiting
-Hemiplegia (ictal)
Ataxia, limb
Migraine (ictal)
-Dystonia (ictal)
Muscular hypotonia
Cerebellar atrophy
Dysarthria
Migraine
-Limb ataxia (interictal)
Muscle weakness
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n.a.
No
A
JPN
n.a.
n.a.
n.a.
Dysarthria
Gait ataxia
Ataxia (interictal)
Ataxia
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n.a.
No
A
JPN
18
37
n.a.
Gait ataxia
Cerebellar atrophy
Dysarthria (interictal)
-Gait ataxia (interictal)
Headache
Ataxia
Ataxia (interictal)
Dysarthria
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n.a.
No
A
JPN
30
66
n.a.
Headache
Gait ataxia
Ataxia
Coma
Dysarthria (interictal)
Dysarthria
-Gait ataxia (interictal)
Ataxia (interictal)
Hemiplegia
Cerebellar atrophy
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n.a.