Int. J. Mol. Sci. 2015, 16, 25050-25066; doi:10.3390/ijms161025050 OPEN ACCESS International Journal of Molecular Sciences ISSN 1422-0067 www.mdpi.com/journal/ijms Article Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation Dietmar R. Thal 1,2,*, Stephan Züchner 3,4, Stephan Gierer 5, Claudia Schulte 6,7, Ludger Schöls 6,7, Rebecca Schüle 3,6,7,† and Matthis Synofzik 5,6,†,* 1 Laboratory of Neuropathology—Institute of Pathology, Center of Clinical Research, University of Ulm, Helmholtzstraße 8/1, D-89081 Ulm, Germany 2 Department of Neuroscience, Katholieke Universiteit Leuven, B-3000 Leuven, Belgium 3 Dr. John T. Macdonald Foundation Department of Human Genetics University of Miami Miller School of Medicine, Miami, FL 33136, USA; E-Mails:
[email protected] (S.Z.);
[email protected] (R.S.) 4 John P. Hussman Institute for Human Genomics, University of Miami Miller School of Medicine, Miami, FL 33136, USA 5 Outpatient Praxis for Neurology, D-89407 Dillingen, Germany; E-Mail:
[email protected] 6 Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, Hoppe-Seyler-Strasse 3, University of Tübingen, 72077 Tübingen, Germany; E-Mails:
[email protected] (C.S.);
[email protected] (L.S.) 7 German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, 72076 Tuebingen, Germany † These authors contributed equally to this work. * Authors to whom correspondence should be addressed; E-Mails:
[email protected] (D.R.T.);
[email protected] (M.S.); Tel.: +32-16-3-44047 (D.R.T); +49-7071-298-2060 (M.S.); Fax: +32-16-3-36548 (D.R.T); +49-7071-2925-0001 (M.S.).