Fig. 1. (a) Patients with compound heterozygous PANK2 gene mutations and their family members. The blackened squares denote the number of patients. (b) ‘Eye of the tiger sign’ of patients PKAN-02, 03 and 04 in T2-magnetic resonance imaging (MRI) image. We identified six Chinese patients with sporadic PKAN, all of whom revealed the typical ‘eye of the tiger’ sign upon brain magnetic resonance im...

Dehong Zeng, Aldo Ferrari, Jens Ulmer, Alexey Veligodskiy, Peter Fischer, Joachim Spatz, Yiannis Ventikos, Dimos Poulikakos, Ruth Kroschewski * Laboratory of Thermodynamics for Emerging Technologies, ETH Zurich, 8092 Zürich, Switzerland # Institute of Biochemistry, ETH Zurich, Schafmattstr. 18, 8093 Zürich, Switzerland § Max-Planck-Institute for Metals Research & University of Heidelberg Dept. ...

Neurodegeneration with brain iron accumulation is a group of disorders, the commonest of which is PKAN (Pantothenate kinase associated neurodegeneration). We present here, a case of 18 year old boy with progressive dementia, pyramidal and extrapyramidal involvement, dysarthria, seizures and myoclonus. The patient was diagnosed as PKAN (formerly Hallervorden Spatz disease) after "eye of tiger" a...

We describe a child with pathologically proven Hallervorden Spatz disease. He presented with extrapyramidal symptoms and characteristic "eye-of-the-tiger" sign on magnetic resonance imaging. He was given the possible benefit if any of deep brain stimulation with no much improvement. Pathological examination of the brain showed iron deposition in bilateral globus pallidi, spongiform change and n...

Despite efforts to the contrary, the use of eponyms remains widespread in medical practice and research. Eponyms appear to collectively function as a form of medical shorthand in communication that also serves to highlight and concretely recall a temporally far removed historical context. The actual assignation of eponyms occurs somewhat haphazardly and typically reflects the explicit recogniti...

Laming. The Victoria Climbie inquiry: report of an inquiry by Lord Laming. January, 2003. http://www.victoria-c1imbie-inquiry.org.uk/nnreport/ nnreport.htm (accessed Nov 13, 2008). BBC News Channel. Men found guilty of baby's death. Nov 11, 2008. http:// news.bbc.co.uk/1/hi/england/london/7706598.stm (accessed Nov 17, 2008). Gilbert R, Spatz Widom C. Browne K, Fergusson D, Webb E, Janson S. Bur...

Julien Dusonchet,1 Olexiy Kochubey,2 Klodjan Stafa,3 Samuel M. Young Jr,4 Romain Zufferey,1 Darren J. Moore,3 Bernard L. Schneider,1 and Patrick Aebischer1 1Neurodegenerative Studies Laboratory, 2Laboratory of Synaptic Mechanisms, and 3Laboratory of Molecular Neurodegenerative Research, Brain Mind Institute, École Polytechnique Fédérale de Lausanne, 1015 Lausanne, Switzerland, and 4Max Planck F...

| August 2015 | 826 In conclusion, treatment plans for HSD patients require general anesthesia when diffi cult intubation criteria and cooperation diffi culty are present.[1,2] Sedoanalgesia under monitored anesthesia care, with titration of short-term anesthetics, and achieving UMSS 3 provides sufficient mouth opening for minor dental surgery procedures. Probable complications are prevented; m...

La maladie d'Hallervorden-Spatz est une affection autosomique récessive très rare. Elle débute essentiellement entre 5 et 12 ans, mais parfois même dans la première année de la vie. Des cas débutant chez l'adulte jeune ont été rarement rapportés. Sa symptomatologie comporte des signes extra-pyramidaux associant: rigidité, mouvements choréo-athétosiques, dystonie, dysarthrie, détérioration intel...

18. Mrsulja BB, Mrsulja BJ, Spatz M et al: Action of cerebral ischemia on decreased levels of 3-methoxy-4-hydroxyshenylethyl glycol sulfate, homovanillic acid and 5-hydroxyindoleacetic acid produced by pargyline. Brain Res 98: 388-393, 1975 19. Wurtman RJ, Lavyne MH, Moskowitz MA et al: Brain monoamine neurotransmitters and the pathophysiology of stroke. In Owman C and Edvinsson LE (eds) Neurog...