## Abstract In a Chinese woman who had diabetes mellitus, undetectable ceruloplasmin, hand tremor, neck dystonia, and cognitive disturbances, genetic analyses revealed a novel homozygous mutation (848G>C or W283S) in exon 5 in the ceruloplasmin gene. Another member with a milder phenotype was also
✦ LIBER ✦
Extrapyramidal and cerebellar movement disorder in association with heterozygous ceruloplasmin gene mutation
✍ Scribed by Jens Kuhn; Hiroaki Miyajima; Yoshitomo Takahashi; Bernhard Kunath; Ursula Hartmann-Klosterkoetter; Déirdre Cooper-Mahkorn; Mark Schaefer; Heiko Bewermeyer
- Book ID
- 106092789
- Publisher
- Springer
- Year
- 2005
- Tongue
- English
- Weight
- 186 KB
- Volume
- 252
- Category
- Article
- ISSN
- 0340-5354
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## Abstract Several lines of evidence indicate an involvement of brain derived neurotrophic factor (BDNF) in body weight regulation and activity: heterozygous __Bdnf__ knockout mice (__Bdnf__^+/−^) are hyperphagic, obese, and hyperactive; furthermore, central infusion of BDNF leads to severe, dose‐