Malattia di Parkinson Diagnosi differenziale. Cholinergic and adrenergic nerves Autonomic reflex...
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Transcript of Malattia di Parkinson Diagnosi differenziale. Cholinergic and adrenergic nerves Autonomic reflex...
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Malattia di Parkinson
Diagnosi differenziale
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Cholinergic and adrenergic nerves
Autonomic reflex pathways
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Innervation of the heart Autonomic nerves and ganglia in the pelvis
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Malattia di Parkinson
Genetica
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Loci and genes linked to familial PD
Locus Location Gene Inheritance
PARK1 4p21.3 -Synuclein AD
PARK2 6q25.2-27 Parkin AR
PARK3 2p13 AD
PARK4 4p15 AD
PARK5 4p14 UCH-L1 AD
PARK6 1p35-p36 PINK1 AR
PARK7 1p36 DJ-1 AR
PARK8 12p11.2-q13.1
Dardarin AD
PARK9 1p36 AR(Kufor-Rakeb syndrome)
PARK 10 1p32 Late-onset susceptibility gene
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The Marsala kindred
IV:5
V:7 V:8
VI:5 VI:7 VI:9VI:8
VII:8 VII:9
VI:10
VII:10
II:3 II:4
IV:8 IV:9 IV:11
V:10 V:12 V:13
VI:15 VI:16
VII:16
V:11
VI:17 VI:20VI:18
VII:19 VII:20
V:14
VI:23 VI:24VI:22
VII:24 VII:25
IV:12
III:1 III:3 III:4
II:9 II:8
III:2
I:1 I:2
IV:6 IV:13
V:9
IV:10
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Malattia di Parkinson
Neurostimolazione
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Moro et al. 1999
Methods
Surgical procedure Surgery performed in the practically defined off condition Talairach’s stereotactic frame modified for a polar
approach. Ventriculography Bilateral implant of a Medtronic 3389 lead
3389
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Romito et al. 2002
Bilateral STN implant
0
200
400
600
800
1000
1200
1400
1600
0 5 10 15 20 25 30 35 40
Months
LE
DD
00,20,40,60,811,21,41,61,8
Ene
rgy
(Wat
ts •
10-
6)
LEDD reduction at 24 months: -62.9%LEDD reduction at 24 months: -62.9%
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Romito et a. 2002
Bilateral STN implant
Levodopa equivalent daily dose Mean ±SD
Before surgery 1505.5 ±722.8
Last available visit 491.7 ±325.4
Variation -69.3%
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Romito et a. 2002
Bilateral STN implantUPDRS-III Baseline 12 months Last visit
UPDRS II 31.6 ±5.9 10.1 ±6.1-68.1%
10.0 ±6.3-68.4%
Schwab & England
24.5 ±14.4 83.6 ±12.9 80.0 ±14.1
UPDRS-III 60.2 ±9.3 30.8 ±13.7
-48.8%
29.9 ±12.5-50.2%
LEDD 1505.9 ±722.8 468.3 ±294.2-68.3%
491.7 ±325.4-69.3%
Hoehn & Yahr 4.3 ±0.8 2.1 ±1.1-51.1%
1.9 ±0.9-55.9%
Energy (W) 1.56 ±0.5 1.53 ±0.5
Patients 22 22 22
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Distonia
Neurostimolazione
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a b
c d
A patient with generalized dystonia and prominent axial involvement is shown before (a, b) and 6 months after implant with high frequency stimulation implant in the GPi (c, d). The improvement in posture and gait is evident from these still frames taken from video clips (courtesy of Dr. Nardocci).