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.
|
Parkinsonism
Cognitive decline Bradykinesia Gait difficulties/falls Psychotic sign/sympt. Primitive reflexes Intellectual developmental disorder Minimyoclonus Tremor (any or unspecified) Spasticity/pyramidal signs Saccadic abnormalities Hypomimia Dysphagia Developmental delay/intellectual disability Hyperreflexia Hallucinations Dysarthria/anarthria Cerebral atrophy Atypical parkinsonism Vertical gaze palsy Swallowing disorder Rigidity Show more (+19) |
n.a.
|