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.
|
Dysarthria (ictal)
-Muscle weakness (ictal) Dysarthria -Limb ataxia (interictal) -Tremor (ictal) Muscle weakness Tremor (any or unspecified) Ataxia Ataxia, limb Show more (+6) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
15
|
n.a.
|
n.a.
|
Ataxia
Muscle weakness Dysarthria (ictal) Vertigo (ictal) Tremor (any or unspecified) Ataxia, limb (ictal) Headache Cerebellar atrophy Ataxia, limb Emotional stress trigger Nausea (ictal) Migraine Vertigo -Tremor (ictal) -Muscle weakness (ictal) Dysarthria Nausea Physical stress trigger Ataxia (ictal) Show more (+16) |
n.a.
|
|
No
|
♀
|
n.a.
|
n.a.
|
6
|
12
|
n.a.
|
Headache
Tremor (any or unspecified) -Tremor (interictal) Cerebellar atrophy Dysarthria Muscular hypotonia Extensor plantar response Dysarthria (interictal) Ataxia Seizures Muscular hypotonia (interictal) -Limb ataxia (interictal) Ataxia (interictal) Ataxia, limb Show more (+11) |
Tremor (any or unspecified)
Dysarthria |