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