Pietrzak, 2019: Overview of all reported PARK-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.
|
Atypical parkinsonism
Primitive reflexes Developmental delay/intellectual disability Saccadic abnormalities Swallowing disorder Cognitive decline Rigidity Dysarthria/anarthria Minimyoclonus Parkinsonism Hypomimia Hyperreflexia Gait difficulties/falls Vertical gaze palsy Bradykinesia Intellectual developmental disorder Cerebral atrophy Psychotic sign/sympt. Spasticity/pyramidal signs Tremor (any or unspecified) Dysphagia Hallucinations Show more (+19) |
n.a.
|