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