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