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