malattia di parkinson diagnosi differenziale. cholinergic and adrenergic nerves autonomic reflex...

Malattia di Parkinson

Diagnosi differenziale

Cholinergic and adrenergic nerves

Autonomic reflex pathways

Innervation of the heart Autonomic nerves and ganglia in the pelvis

Malattia di Parkinson

Genetica

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

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

Malattia di Parkinson

Neurostimolazione

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

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%

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%

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

Distonia

Neurostimolazione

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).