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