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