Pietrzak, 2019: Overview of all reported MxMD-ATP13A2 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
POL
|
1
|
28
|
n.a.
|
Cognitive decline
Psychotic sign/sympt. Atypical parkinsonism Spasticity/pyramidal signs Hyperreflexia Gait difficulties/falls Dysphagia Hallucinations Dysarthria/anarthria Minimyoclonus Tremor (any or unspecified) Swallowing disorder Hypomimia Primitive reflexes Intellectual developmental disorder Developmental delay/intellectual disability Saccadic abnormalities Cerebral atrophy Parkinsonism Vertical gaze palsy Bradykinesia Rigidity Show more (+19) |
n.a.
|