Die Fortschritte der Genetik haben in den letzten Jahren zu einem enormen Wissensschub in der Erkenntnis der Grundlagen und Entstehung von Hirn- und Nervenkrankheiten geführt. Zum einen wurde die Diagnostik von erblich bedingten neurologischen Erkrankungen verbessert. Zum anderen kann aufgrund der neuen Erkenntnisse auch die Krankheitsentstehung vieler nicht erblich bedingter neurologischer Erkrankungen untersucht werden. Dies gibt Hoffnung in Bezug auf die Entwicklung neuer therapeutischer Ansätze dieser heute oft unbehandelbaren Krankheiten.

Die Neurogenetik-Sprechstunde der Neurologischen Poliklinik steht für folgende Fragestellungen zur Verfügung:

• Beratung und Abklärung von Patientinnen und Patienten mit möglicherweise erblich bedingten Erkrankungen des peripheren und zentralen Nervensystems sowie der Muskulatur.
• Spezialärztliche Betreuung und Therapie von Patientinnen und Patienten mit erblich bedingten neurologischen Erkrankungen.
• Beratung und Abklärung von Angehörigen von Patientinnen und Patienten mit erblich bedingten neurologischen Erkrankungen bezüglich ihres Krankheitsrisikos.

Anmeldungen

Eine Anmeldung in die Neurogenetik-Sprechstunde kann über den behandelnden Arzt schriftlich, per Fax (044 255 43 80) oder über gesichertes Mail (nos-dispo-amb@usz.ch) erfolgen.

Neurogenetik-Labor

Das Neurogenetik-Labor ist in das Liquorlabor der Klinik für Neurologie integriert und bietet folgende Untersuchungen an:

• Asservation und Aufbewahrung von DNS-Proben
• Versand von DNS-Proben zur molekulargenetischen Analyse spezifischer genetisch determinierter neurologischer Erkrankungen

Neurogenetics

The progress in the field of genetics allowed a better recognition of the basis of neurological and neuromuscular disorders. On one hand, this led to more efficient diagnostic tools for hereditary neurological disorders. On the other hand, this development allowed a better examination the molecular basis and pathogenesis also in non-hereditary neurological disorders. Hopefully, this will lead to novel therapeutic strategies for these disorders, which often cannot be treated adequately to date.

Neurogenetic Consultation

The neurogenetic consultation of the Department of Neurology offers:

• Counseling and assessment of patients with potentially hereditary disorders of the central and peripheral nervous system and muscle disorders
• Medical treatment of patients with hereditary neurological and neuromuscular disorders 
• Counseling and assessment of relatives of patients at risk of a hereditary neurological and neuromuscular disorder

Referral

A referral to the Neurogenetics consultation can be made by letter, fax (+41 (0)44 255 43 80) or secure mail (nos-dispo-amb@usz.ch).

Neurogenetic Laboratory

The neurogenetic laboratory is integrated into the CSF laboratory of the Department of Neurology. It offers:

• Asservation und storage of DNA samples
• Shipment of DNA samples for the molecular genetic analysis of specific genetically determined neurological and neuromuscular disorders

Scientific Focus

The scientific focus of the research group is the examination of the role of physical exercise on muscle properties and course of neuromuscular and neurodegenerative disorders. One current project funded by the Swiss National Foundation (SNF) examines the effect of regular physical exercise in patients with Huntington's disease. Other clinical-scientific projects are dedicated to the clinical, pathological and genetic characterization of Swiss patients with muscle dystrophies and the McLeod neuroacanthocytosis syndrome.

We are members of the European Huntington Disease Network (EHDN) and participate to the Registry Study (http://www.euro-hd.net).

Team

Team Leader

Prof. Dr. med. Hans H. Jung
Senior Leading Physician
Tel.: +41 (0) 44 255 5520
Fax: +41 (0) 44 255 4380
E-Mail: hans.jung@usz.ch

Medical and Scientific Staff (in alphabetical order)

Dr. med. Maria Auer
Resident
Tel.: +41 (0) 44 255 1111
Fax: +41 (0) 44 255 4380
E-Mail: maria.auer@usz.ch

Dr. Sportwiss. Sebastian Frese
Postdoctoral research fellow
Tel.: +41 (0) 44 635 61 02
Fax: +41 (0) 44 255 4380
E-Mail: sebastian.frese@hest.ethz.ch

Dr. med. Jens Petersen
Resident
Tel.: +41 (0) 44 255 1111
Fax: +41 (0) 44 255 4380
E-Mail: jens.petersen@usz.ch

List of publication

1. Jung HH, Danek A, Walker RH, Frey BM, Gassner C: McLeod Neuroacanthocytosis Syndrome (May 2012) in: GeneReviews at GeneTests: Medical Genetics Information Resource [database online]. Copyright, University of Washington, Seattle, 1997-2012. Available at http://www.genetests.org
2. Jung HH, Danek A, Walker RH (2011) Neuroacanthocytosis syndromes. Orphanet J Rare Dis 6:68.
3. Gantenbein A, Damon-Perrière N,  Bohlender JE,  Chauveau M, Latxague C, Miranda M, Jung HH. Tison F (2011) Feeding dystonia in McLeod syndrome. Mov Disord 26: 2123-2126
4. Tomiyasu A, Nakamura M, Ichiba M, Ueno S, Saiki S, Morimoto M, Kobal J, Kageyama Y, Inui T, Wakabayashi K, Yamada T, Kanemori Y, Jung HH, Tanaka H, Orimo S, Afawi Z, Blatt, Aasly J, Ujike H, Babovic-Vuksanovic D, Josephs KA, Tohge R, Riccioppo Rodrigues G, Dupré N, Yamada H, Yokochi F, Kotschet K, Takei T, Rudzi?ska M, Szczudlik A, Penco S, Fujiwara M, Tojo K, Sano A (2011). Novel pathogenic mutations and copy number variations in the VPS13A gene in patients with chorea-acanthocytosis Am J Med Genet B Neuropsychiatr Genet 156: 620-631
5. Walterfang M, Evans A, Looi J, Jung HH, Danek A, Walker R, Velakoulis D (2011) The neuropsychiatriy of neuroacanthocytosis syndromes. Neurosci Biobehav Rev 35: 1275-1283
6. Polymenidou M, Prokop S, Jung HH, Hewer E,  Peretz D, Moos R, Tolnay M,  Aguzzi A (2011) Atypical prion protein conformation in familial prion disease with PRNP P105T mutation        Brain Pathology 21: 209-214
7. Willemsen MA, Verbeek MM, Kamsteeg EJ, de Rijk JF-van Andel, Aeby A, Blau N, Burlina A, Donati MA, Geurtz B, Grattan-Smith PJ, Haeussler M, Hoffmann GF, Jung H, de Klerk JB, van der Knaap MS, Kok F, Leuzzi V, de Lonlay P, Megarbane A, Monaghan H, Renier WO, Rondot P, Ryan MM, Seeger J, Smeitink JA, Steenbergen-Spanjers GC, Wassmer E, Weschke B, Wijburg FA, Wilcken B, Zafeiriou DI, Wevers RA (2010) Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain 133: 1810-22
8. Valko PO, Hänggi J, Meyer M, Jung HH (2010). Evolution of striatal degeneration in McLeod syndrome. Eur J Neurol 2010; 17: 612-618
9. Ramseier SP, Jung HH (2010). Wilson Disease. Praxis 99: 175-182
10. Akhvledian T, Henning A, Sandor PS, Boesiger P, Jung HH (2010). Adaptive metabolic changes in CADASIL white matter. J Neurol 257:171-177
11. Hewer E, Danek A, Schoser BG, Miranda M, Reichard R, Castiglioni C, Oechsner M, Goebel HH, Heppner FL, Jung HH (2007). McLeod myopathy revisited - more neurogenic and less benign. Brain 130: 3285-3296
12. Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A (2007) Neurologic phenotypes associated with acanthocytosis. Neurology  68:92-98
13. Jung HH, Wimplinger I, Jung S, Landau K, Gal A, Heppner FL (2007). Phenotypes of female adrenoleukodystrophy. Neurology 68; 960-961
14. Dydak U, Mueller S, Sandor PS, Meier D, Boesiger P, Jung HH (2006) Cerebral metabolic alterations in McLeod Syndrome. Eur Neurol 56:17-23
15. Schiller A, Wevers RA, Steenbergen GCH, Blau N, Jung HH (2004) Long-term course of L-Dopa-responsive dystonia caused by tyrosine hydroxylase deficiency. Neurology 63:1524-1526
16. Bartholdi D, Zumsteg D, Verrips A, Wevers RA, Sistermans E, Hess K, Jung HH (2004) Spinal phenotype of cerebrotendinous xanthomatosis: A pitfall in the diagnosis of multiple sclerosis. J Neurol  251:105-107
17. Jung HH, Hergersberg M, Kneifel S, Alkadhi H, Schiess R, Weigell-Weber M, Daniels G, Kollias S,  Hess K (2001) McLeod Syndrome: A novel mutation, predominant psychiatric manifestations, and distinct striatal imaging findings. Ann Neurol 49: 384-392
18. Laberge S, Jung HH, Labauge P, Houtteville JP, Lescoat C, Cécillon M, Maréchal E, Joutel A, Bach JF, Tournier-Lasserve E (1999) Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 23: 189-193