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