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