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.
Ataxia (interictal)
Cerebellar atrophy
Muscle weakness
Hemiplegia
Ataxia
-Gait ataxia (interictal)
Vomiting
Coma
Gait ataxia
Headache
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n.a.
Yes
A
JPN
4
8
n.a.
Nystagmus
Ataxia (ictal)
Ataxia
Ataxia (interictal)
Dysarthria (ictal)
Hemiplegia
Migraine
Cerebellar atrophy
Migraine (ictal)
Dystonia (any or unspecified)
Ataxia, limb
Vomiting
Muscle weakness
Dysarthria (interictal)
Gait ataxia
Dysarthria
Coma
Nystagmus (interictal)
Vomiting (ictal)
Muscular hypotonia
Muscular hypotonia (interictal)
-Muscle weakness (ictal)
-Limb ataxia (interictal)
-Dystonia (ictal)
-Gait ataxia (interictal)
-Hemiplegia (ictal)
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n.a.
No
A
JPN
n.a.
n.a.
n.a.
Gait ataxia
Ataxia
Dysarthria
Ataxia (interictal)
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n.a.
No
A
JPN
18
37
n.a.
Dysarthria (interictal)
-Gait ataxia (interictal)
Ataxia
Dysarthria
Gait ataxia
Cerebellar atrophy
Headache
Ataxia (interictal)
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n.a.
No
A
JPN
30
66
n.a.
Dysarthria (interictal)
Ataxia (interictal)
Gait ataxia
Ataxia
-Gait ataxia (interictal)
Headache
Dysarthria
Cerebellar atrophy
Hemiplegia
Coma
Show more (+7)
n.a.