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HSR-Milan

Istituto Scientifico Universitario San Raffaele, Milan, Italy

Dr. Casari will coordinate the research efforts at HSR-Milan (University of Milano). He has a long-standing experience in molecular genetics and functional studies of human hereditary diseases, in particular neurological diseases like epilepsy and migraine. For the Project, he will involved in transgenic models that will be analysed by Institute of Neurology (ION), University of Padova (UNPD I), and Leiden University Medical Centre (LUMC). He will also collaborate with LUMC, University of Helsinki (UH.HGC) and University of Duisburg-Essen (Uni Essen) on genetic population studies.

Summary of relevant expertise

  1. Molecular genetics of human neurological diseases. Genes for several neurological disorders have been identified in his group, including a gene for hereditary spastic paraplegia (SPG7), caused by loss-of-function of mitochondrial metalloprotease paraplegin, for Nocturnal Frontal Lobe Epilepsy (ADNFLE), which is due to mutations of the beta 2 subunit of the neuronal nicotinic receptor, and recently, the 1q21-linked form of familial hemiplegic migraine, that was associated with mutations in the alpha 2 subunit of the Na,K pump have been identified.
  2. Transgenic animals for human diseases. Transgenic mice such as a knockout for SPG7 and inducible transgenic mouse models for ADNFLE have been generated.

Five recent publications: (From a total of 87 Peer-reviewed publications)

Two de novo mutations in the Na,K-ATPase gene ATP1A2 associated with pure familial hemiplegic migraine.

Vanmolkot KR, Kors EE, Turk U, Turkdogan D, Keyser A, Broos LA, Kia SK, van den Heuvel JJ, Black DF, Haan J, Frants RR, Barone V, Ferrari MD, Casari G, Koenderink JB, van den Maagdenberg AM.

Eur J Hum Genet 2006 Mar 15; [Epub ahead of print]

ATP1A2 mutations in 11 families with familial hemiplegic migraine.

Riant F, De Fusco M, Aridon P, Ducros A, Ploton C, Marchelli F, Maciazek J, Bousser MG, Casari G, Tournier-Lasserve E.

Hum Mutat 2005;26:281.

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures.

Martinelli Boneschi F, Aridon P, Zara F, Guerrini R, Marini C, De Fusco M, Comi G, Casari G.

Neurosci Lett 2005;388:71-4.

Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation.

Bruni AC, Takahashi-Fujigasaki J, Maltecca F, Foncin JF, Servadio A, Casari G, D'Adamo P, Maletta R, Curcio SA, De Michele G, Filla A, El Hachimi KH, Duyckaerts C.

Arch Neurol 2004;61:1314-20

Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23.

Marconi R, De Fusco M, Aridon P, Plewnia K, Rossi M, Carapelli S, Ballabio A, Morgante L, Musolino R, Epifanio A, Micieli G, De Michele G, Casari G.

Ann Neurol 2003;53:376-81.

This page last modified: 06/04/2006