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