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