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The Team from Italy have major interests in the clinical, genetics and pathophysiology of inherited neurological disorders.
The ITALIAN
MIGRAINE TEAM consists of two research groups:
| The Laboratory
of Clinical Molecular Biology, I.R.C.C.S. H San Raffaele, Milano, coordinated
by Dr. Paola Carrera.
It is involved in the characterization of new mutations associated with Familial Hemiplegic Migraine with or without Progressive Cerebellar Ataxia (FHM and FHM/PCA) and in studying the genetics of more common types of Migraine (MO and MA). In addition, the cloning of full-length cDNAs from CACNA1A human gene is being performed. Exchanges with other teams of the “Neuronal Calcium Channel in Disease” Research Training Network (link) are planned in order to maximize the sensitivity of mutation detection and to functionally characterize new mutations associated with different phenotypes. The Clinical
Molecular Biology Laboratory has a decade’s worth of experience in mutation
detection technology, with a group of fourteen people involved in either
molecular genetics research or diagnostics. It is located in the
Research projects coordinated by The Laboratory of Clinical Molecular Biology, I.R.C.C.S. H San Raffaele, Milano:  Search
for candidate genes and association studies in familial migraine-->
Mutation detection in MA/MO patients
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Mutation detection in FHM patients and functional characterization of mutans
--> Cloning of CACNA1A gene isoforms |
| The Department
of Neurological Sciences, University of Siena, coordinated by Dr.
Stefania Battistini.
It is involved in clinical research with emphasis on diagnosis, clinical investigation, neurophysiological (EEG, Evoked Potentials, Transcranial Magnetic Stimulation) and imaging (Functional Magnetic Resonance Imaging) studies and drug trials in neurological disorders (migraine, epilepsy and parkinson). Clinical
investigation of Familial Hemiplegic Migraine (FHM) patientsCreation
of an electronic patient databaseFunctional
Magnetic Resonance Imaging (fMRI) StudyCortical
excitability in migraine
Drug
Trial |
| COLLABORATIONS
A collaboration
is going on between the ITALIAN MIGRAINE TEAM and the Team of Innsbruck
University , to functionally characterize new mutations associated
with pure HM and HM/PCA phenotypes.
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| 1) Ophoff
R.A., Terwindt G.M., Vergouwe M.N., van Eijk R., Oefner P.J., Hoffman S.M.G.,
Lamerdin J.E., Mohrenweiser H.W., Bulman D.E., Ferrari M., Haan J., Lindhout
D., van Ommen G.B., Hofker M.H., Ferrari M.D., Frants R.R.
Familial Hemiplegic Migraine and Episodic Ataxia Type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 87, 543-552, 1996. (pdf) |
| 2) Carrera
P., Piatti M., Stenirri S., Grimaldi L.M.E., Marchioni E., Curcio M., Righetti
P.G., Ferrari M. & Gelfi C.
Genetic heterogeneity in Italian families with Familial Hemiplegic Migraine. Neurology 53, 26-32, 1999. (pdf) |
| 3) Battistini
S., Stenirri S., Piatti M., Gelfi C., Righetti P.G., Rocchi R., Giannini
F., Battistini N., Guazzi G.C., Ferrari M. & Carrera P.
A new CACNA1A gene mutation in acetazolamide responsive familial hemiplegic migraine and ataxia. Neurology 53, 38-43, 1999.(pdf) |
| 4) Kraus
R.L., Sinnegger M. J., Koschak A., Glossmann H., Stenirri S., Carrera P.,
& Striessnig J.
Three new Familial Hemiplegic Migraine mutants affect P/Q-type Ca2+ channel kinetics. The JBC 275, 9239-9243, 2000 (pdf) |
COORDINATORS:
Dr. Stefania BattistiniDepartment
of Neurological Sciences
University
of Siena
Viale
Bracci 2
53100
Siena
Italy
Tel:
+39-0577-233474
Fax:
+39-0577-270260
e-mail:
battistinis@unisi.it
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Dr.
Paola Carrera
I.R.C.C.S.
H San Raffaele,
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| - Battistini
Noé , M.D.
- Rocchi Raffaele, M.D. - Vatti Giampaolo, M.D. - Rossi Simone, M.D., PhD - Ulivelli Monica, M.D., PhD - Zito Giancarlo, Post-Doctoral Fellow - Tatiana Marsili, Computer Scientist |
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Ferrari Maurizio, M.D.
- Stenirri Stefania, PhD - Riccardo Roggeri, student in B. S. and computer specialist - Soriani Nadia, Technician |