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