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