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