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