Early-onset parkinsonism in cerebrotendinous xanthomatosis
✍ Scribed by Francisco Grandas; Mercedes Martín-Moro; Susana Garcia-Muñozguren; Fernando Anaya
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 63 KB
- Volume
- 17
- Category
- Article
- ISSN
- 0885-3185
No coin nor oath required. For personal study only.
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## Abstract Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using ^99m^Tc‐[2‐[[2‐[[[3‐(4‐chlorophenyl)‐8‐methyl‐8‐azabicyclo [3,2,1] oct‐2‐yl] methyl] (2‐mercaptoethyl) amino] ethyl] amino]‐ethanethiolato(3‐)
## Abstract Mutations in __GTP‐cyclohydrolase 1__ (__GCH1__) cause autosomal dominant dopa‐responsive dystonia (DRD), characterized by childhood‐onset foot dystonia that later generalizes. DRD patients frequently present with associated Parkinsonism. Conversely, early‐onset Parkinson's disease (EOP