Romaniello, 2010: 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.
n.a.
n.a.
n.a.
Tremor (any or unspecified)
Ataxia, limb
-Muscle weakness (ictal)
Muscle weakness
Ataxia
-Tremor (ictal)
-Limb ataxia (interictal)
Dysarthria (ictal)
Dysarthria
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n.a.
No
n.a.
n.a.
15
n.a.
n.a.
Ataxia, limb
Dysarthria (ictal)
Ataxia, limb (ictal)
Ataxia (ictal)
Vertigo
Muscle weakness
-Muscle weakness (ictal)
Nausea
Headache
Ataxia
Tremor (any or unspecified)
Migraine
-Tremor (ictal)
Dysarthria
Cerebellar atrophy
Nausea (ictal)
Physical stress trigger
Emotional stress trigger
Vertigo (ictal)
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n.a.
No
n.a.
n.a.
6
12
n.a.
-Tremor (interictal)
Tremor (any or unspecified)
Seizures
Headache
Ataxia, limb
-Limb ataxia (interictal)
Dysarthria (interictal)
Muscular hypotonia (interictal)
Ataxia
Muscular hypotonia
Extensor plantar response
Dysarthria
Cerebellar atrophy
Ataxia (interictal)
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Tremor (any or unspecified)
Dysarthria