Horvath, 2008: Overview of all reported DYT/PARK-GCH1 patients
| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
A
|
PAK
|
1
|
3
|
n.a.
|
Microcephaly
Parkinsonism Dystonia (any or unspecified) Dystonia, limb Global developmental delay Decreased body weight Muscular hypotonia Lower limb dystonia Dystonia, foot Dystonia/Parkinsonism Dystonia, leg Delayed speech and language development Developmental regression Spasticity Motor delay Show more (+12) |
Dystonia, limb
|
|
No
|
♂
|
A
|
PAK
|
0
|
2
|
n.a.
|
Muscular hypotonia
Delayed speech and language development Tremor (any or unspecified) Dystonia (any or unspecified) Dystonia, limb Developmental regression Global developmental delay Parkinsonism Spasticity Dystonia/Parkinsonism Motor delay Show more (+8) |
Tremor (any or unspecified)
|