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