| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
H
|
BRA
|
2
|
36
|
n.a.
|
Muscle weakness, upper limb
Dysarthria Spasticity, lower limb Dysphagia Impaired temperature sensation Impaired proprioception Hyperreflexia in upper limbs Impaired pain sensation Wheelchair Lower limb muscle weakness Pes cavus Impaired vibratory sensation Abnormality of the cerebral white matter Mri brain other abnormalities Spasticity, upper limb Central motor conduction time abnormality Inability to walk Show more (+14) |
n.a.
|