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Unità di Neuropatologia Sperimentale
Istituto di Neurologia Sperimentale INSPE
Divisione di Neuroscienze
Ospedale San Raffaele
Dr. Angelo Quattrini
Lecce 21 gennaio 2015
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)
Biopsia Nervo Surale
Danno assonale
Biopsia Nervo Otturatorio
• 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
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
ALS
MN
Case 4: 58y/M
Symmetric
weaknes: LL>UL
D=P
Clinical follow-up:
ALS
MND: typical features. Axonal degeneration, no regeneration,
focal/pathcy reduction of nerve fibres
Motor neuropathies: typical features
Case 16: 60y/M
Symmetric
weaknes: LL>UL
D=P
Clinical follow-up: SMN
Motor neuropathies: specific features. Amyloidosis
Case 14: 59y/M Asymmetric weakness:
LL>UL
D>P
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
PNS Neuropathology: ALS animal model
ACUTE NEUROPATHY / NEURONOPATHY
Motor Compartment involvement
DORSAL ROOR GANGLION
VENTRAL ROOT
Motor Compartment involvement
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.
Foglio1
Probe ID Gene Symbol
ILMN_1815556 PRAP1
ILMN_1792356 DPYSL4
ILMN_1705397 PDK2
ILMN_1767015 BCORL1
ILMN_2318568 HCFC1R1
ILMN_1741755 TRIM29
ILMN_1653927 SNORD83A
ILMN_1660501 LY6H
ILMN_1652147 MRPL43
ILMN_2237252 LY6H
ILMN_1661708 LGALS7
ILMN_1702009 SV2A
ILMN_2053992 HIST4H4
ILMN_1712913 UNC5A
ILMN_1701875 ZYX
ILMN_2052438 CYorf14
ILMN_1800843 SCAMP4
ILMN_2300695 IKZF3
ILMN_1674243 TFRC
ILMN_1675331 PEG3
ILMN_1695311 HLA-DMA
ILMN_1726327 AMY1B
ILMN_3310216 MIR1911
ILMN_2294762 AMY1A
ILMN_2213558 TMED10P
ILMN_1696035 C12orf8
ILMN_1739622 PPP1R12A
ILMN_2102515 PGAM4
ILMN_1777976 SLC25A26
ILMN_3243441 EEF1AL7
ILMN_1690894 TRA1P2
Up-regulated genes
Down-regulated
genes
Microarray Gene Expression
Drug Discovery
Neuropathological features of Metachromatic Leukodystrophy mice
Consiglio A. et al, Nat Med 2001;7:310-316
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
Animal experiments and human studies are complementary and both are necessary.
HSC gene therapy can prevent progression of MLD.
Ldb valecoricerca_quattrini_neuropatologia

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Ldb valecoricerca_quattrini_neuropatologia

  • 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
  • 9. Case 4: 58y/M Symmetric weaknes: LL>UL D=P Clinical follow-up: ALS MND: typical features. Axonal degeneration, no regeneration, focal/pathcy reduction of nerve fibres
  • 10. Motor neuropathies: typical features Case 16: 60y/M Symmetric weaknes: LL>UL D=P Clinical follow-up: SMN
  • 11. Motor neuropathies: specific features. Amyloidosis Case 14: 59y/M Asymmetric weakness: LL>UL D>P
  • 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
  • 13. PNS Neuropathology: ALS animal model ACUTE NEUROPATHY / NEURONOPATHY
  • 15. DORSAL ROOR GANGLION VENTRAL ROOT Motor Compartment involvement
  • 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.
  • 17. Foglio1 Probe ID Gene Symbol ILMN_1815556 PRAP1 ILMN_1792356 DPYSL4 ILMN_1705397 PDK2 ILMN_1767015 BCORL1 ILMN_2318568 HCFC1R1 ILMN_1741755 TRIM29 ILMN_1653927 SNORD83A ILMN_1660501 LY6H ILMN_1652147 MRPL43 ILMN_2237252 LY6H ILMN_1661708 LGALS7 ILMN_1702009 SV2A ILMN_2053992 HIST4H4 ILMN_1712913 UNC5A ILMN_1701875 ZYX ILMN_2052438 CYorf14 ILMN_1800843 SCAMP4 ILMN_2300695 IKZF3 ILMN_1674243 TFRC ILMN_1675331 PEG3 ILMN_1695311 HLA-DMA ILMN_1726327 AMY1B ILMN_3310216 MIR1911 ILMN_2294762 AMY1A ILMN_2213558 TMED10P ILMN_1696035 C12orf8 ILMN_1739622 PPP1R12A ILMN_2102515 PGAM4 ILMN_1777976 SLC25A26 ILMN_3243441 EEF1AL7 ILMN_1690894 TRA1P2 Up-regulated genes Down-regulated genes Microarray Gene Expression
  • 19. Neuropathological features of Metachromatic Leukodystrophy mice Consiglio A. et al, Nat Med 2001;7:310-316
  • 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.