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