| 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
Spasticity, lower limb Dysarthria Inability to walk Impaired temperature sensation Abnormality of the cerebral white matter Mri brain other abnormalities Impaired pain sensation Central motor conduction time abnormality Dysphagia Impaired vibratory sensation Wheelchair Spasticity, upper limb Lower limb muscle weakness Impaired proprioception Pes cavus Hyperreflexia in upper limbs Show more (+14) |
n.a.
|