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