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