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