Gaucher disease associated with parkinsonism: Four further case reports
✍ Scribed by Judit Várkonyi; Hanna Rosenbaum; Nicole Baumann; Jennifer J. MacKenzie; Zsuzsa Simon; Judith Aharon-Peretz; Jamie M. Walker; Nahid Tayebi; Ellen Sidransky
- Publisher
- John Wiley and Sons
- Year
- 2002
- Tongue
- English
- Weight
- 54 KB
- Volume
- 116A
- Category
- Article
- ISSN
- 1552-4825
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Uniparental disomy (UPD) is the inheritance of both copies of a given chromosome from the same parent (Warburton, 1988;Anon., 1991). The exact disease associations of UPD of individual chromosomes have yet to be fully elucidated and the question of whether UPD of some chromosomes may be regarded as
## Abstract We report the case of a young man who presented with a severe acute akinetic–rigid disorder 2 weeks after complete recovery from an episode of pharyngitis. Magnetic resonance imaging scan abnormalities strikingly localized to the basal ganglia were accompanied by serological evidence of