Citation
Nijssen, P. C. G. (2011, January 19). Autosomal dominant adult neuronal ceroid lipofuscinosis. Retrieved from https://hdl.handle.net/1887/16344
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Autosomal dominant adult
neuronal ceroid
lipofuscinosis
P.C.G. Nijssen
Autosomal dominant adult
neuronal ceroid
lipofuscinosis
Proefschrift ter verkrijging van de graad van Doctor aan de Universiteit Leiden,
op gezag van Rector Magnificus prof. mr. P.F. van der Heijden, volgens besluit van het College voor Promoties
te verdedigen op woensdag 19 januari 2011 klokke 15.00 uur
door Peter C.G. Nijssen geboren te Geleen in 1961
3
prof. dr. P. Wesseling
4
Contents
Chapter 1: introduction 9
Neuronal Ceroid Lipofuscinosis: Introduction
Chapter 2: clinical 31
Autosomal Dominant Adult Neuronal Ceroid Lipofuscinosis:
parkinsonism due to both striatal and nigral dysfunction
Peter C.G. Nijssen, Esther Brusse, Antonius C.M. Leyten, Jean-Jacques Martin, Johannes L.J.M. Teepen, Raymund A.C. Roos
published in Movement Disorders Vol. 17, No. 3, 2002, pp. 482–487
Chapter 3: pathology 47
Autosomal dominant adult neuronal ceroid-lipofuscinosis:
a novel form of NCL with granular osmiophilic deposits without palmitoyl-protein thioesterase 1 deficiency
Peter C.G. Nijssen, Chantal Ceuterick, Otto P. van Diggelen, Milan Elleder Jean-Jacques Martin, Johannes L.J.M. Teepen, Jaana Tyynelä, Raymund A.C. Roos
published in Brain Pathology 2003 ; 13:574-581
Contents
5
Chapter 5: neurophysiology 93
Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis
Peter C.G. Nijssen, Geert J.F. Brekelmans, Raymund A.C. Roos published in Clinical Neurophysiology 120 (2009) 1782–1786
Chapter 6: auditory 111
Hearing impairment and abnormal Auditory Brainstem Responses in autosomal dominant adult neuronal ceroid lipofuscinosis
Peter C.G. Nijssen, Geert J.F. Brekelmans, Johan H.M. Frijns,Raymund A.C. Roos
submitted
6
Chapter 7: visual 121
Visual symptoms in autosomal dominant adult neuronal ceroid lipofuscinosis
Peter C.G. Nijssen, Geert J.F. Brekelmans, Menno Sluzewski, Floor Tukkers, Raymund A.C. Roos
submitted
