Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
---|---|---|---|---|---|---|---|---|---|
Yes
|
♀
|
C
|
POL
|
1
|
28
|
n.a.
|
Parkinsonism
Gait difficulties/falls Saccadic abnormalities Hypomimia Atypical parkinsonism Bradykinesia Tremor (any or unspecified) Dysarthria/anarthria Developmental delay/intellectual disability Spasticity/pyramidal signs Dysphagia Hallucinations Minimyoclonus Swallowing disorder Psychotic sign/sympt. Cerebral atrophy Intellectual developmental disorder Primitive reflexes Cognitive decline Rigidity Vertical gaze palsy Hyperreflexia Show more (+19) |
n.a.
|