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