The document summarizes the activities and research of the Experimental Neuropathology Unit at the San Raffaele Hospital in Italy. It describes that the unit conducts:
1) Biopsies of sensory and motor nerves as well as skin biopsies as part of its clinical activities.
2) Research on biomaterials for nervous system regeneration, peripheral neuropathies, and experimental disease models as part of its research activities.
3) Studies on animal models of amyotrophic lateral sclerosis to better understand the role of the peripheral nervous system in the disease's progression.
Open Source Strategy in Logistics 2015_Henrik Hankedvz-d-nl-log-conference.pdf
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1. Unità di Neuropatologia Sperimentale
Istituto di Neurologia Sperimentale INSPE
Divisione di Neuroscienze
Ospedale San Raffaele
Dr. Angelo Quattrini
Lecce 21 gennaio 2015
2. Unità di Neuropatologia Sperimentale
Attività clinica:
• Biopsia di nervo sensitivo
• Biopsia di nervo motorio
• Biopsia di cute
Attività di Ricerca:
• Biomateriali per la rigenerazione del sistema
nervoso
• Neuropatie periferiche e malattie del
motoneurone
• Validazione di modelli sperimentali (SNC – SNP)
6. • 15 Patients: 9 MND and 6 MN
• MN: demyelination with small onion
bulb, clusters of regeneration
• MND: loss of fibers, acute fiber
degeneration, rarity of regenerative
clusters.
Usefulness of motor nerve biopsy: diagnostic validation
Case #3
Case #4 Case #7
7. Validate by two-year clinical follow up the diagnostic usefulness of
the motor nerve biopsy
21 patients (between 2003-2006) - Progressive muscular weakness and wasting of unknown
origin affecting more than one limb - onset extending 1 months or more - no signs of sensory
neuropathy - EMG features of neurogenic changes
Baseline: neuropathological diagnosis:
12 patients: MND (CD<20/mm2)
1 patient: not diagnostic
8 patients: MN
1: amyloid neuropathy (CD: 24/mm2)
4 signs of demyelination/remyelination
Follow-up: neuropathological diagnosis:
12 patients: MND
1 patient: MND
8 patients: MN/SMN
1: SM amyloid neuropathy
12. Conclusions
• Biopsy of the motor nerve to the gracilis muscle is a simple procedure. It has an
acceptably low complication rate.
• Motor nerve pathologic examination was helpful for early differential diagnosis of
LMN syndromes
• Motor nerve biopsy should be considered as a potential diagnostic tool for early
differential diagnosis of selected cases of LMND and MN
16. Exploring the peripheral nervous system path to
unravel Amyotrophic Lateral sclerosis
Razionale: La degenerazione a carico dei nervi
periferici è un evento precoce della malattia nonché
una delle principali causa di debolezza muscolare.
Obiettivo: definire il ruolo del sistema nervoso
periferico nell’evoluzione della SLA.
L’obiettivo sarà identificare nuovi marcatori
diagnostici di malattia. Il desiderio è quello di
individuare, inoltre, potenziali target terapeutici con
lo scopo di proteggere le fibre dei nervi periferici
dalla progressiva degenerazione e mantenere la
forza muscolare nei pazienti affetti da SLA.
20. Correction of established neurological deficits.
The neurophysiological deficits were normalized in treated mice along with the major
histopathological abnormalities:
Consiglio A. et al, Nat Med 2001;7:310-316
Biffi A. et al, J Clin Invest 2004;113:1118-1129
Biffi A. et al, J Clin Invest. 2006;116:3070-3082
21. Animal experiments and human studies are complementary and both are necessary.
HSC gene therapy can prevent progression of MLD.