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