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