TY - JOUR
T1 - Dystonia in neurodegeneration with brain iron accumulation
T2 - Outcome of bilateral pallidal stimulation
AU - Timmermann, L.
AU - Pauls, K. A.M.
AU - Wieland, K.
AU - Jech, R.
AU - Kurlemann, G.
AU - Sharma, N.
AU - Gill, S. S.
AU - Haenggeli, C. A.
AU - Hayflick, S. J.
AU - Hogarth, P.
AU - Leenders, K. L.
AU - Limousin, P.
AU - Malanga, C. J.
AU - Moro, E.
AU - Ostrem, J. L.
AU - Revilla, F. J.
AU - Santens, P.
AU - Schnitzler, A.
AU - Tisch, S.
AU - Valldeoriola, F.
AU - Vesper, J.
AU - Volkmann, J.
AU - Woitalla, D.
AU - Peker, S.
N1 - Funding Information:
Hoffnungsbaum e. V. (to A.P., C.W., L.T.); the Klüh-Foundation (to L.T.); the Manfred-and-Ursula-Müller-Foundation (to L.T.); the German Bundesministerium für Bildung und Forschung (BMBF, German Ministry for Education and Research: to L.T.); the Research Program MSˇ M 0021620849 of the Czech Ministry of Education (to R.J.) and by grants IGAMZ 1A/8629-5 and GACˇ R 309/09/1145 (to R.J.); Brain Research Trust UK (to S.T.); and Action Medical Research (to S.T.).
Funding Information:
Lars Timmermann has received honoraria from Medtronic for lecturing and consulting services. Amande Pauls reports no conflict of interest. Karolin Wieland reports no conflict of interest. Robert Jech reports no conflict of interest. Gerhard Kurlemann reports no conflict of interest. Nutan Sharma has been on the speaker’s bureau for Allergan until October 1st 2009. Steven Gill reports no conflict of interest. Charles Haenggeli reports no conflict of interest. Susan Hayflick reports no conflict of interest. Penny Hogarth reports no conflict of interest. Nico Leenders reports no conflict of interest. Patricia Limousin has occasionally received honoraria from Medtronic unrelated to this work. Carl J. Malanga has no conflicts of interest to report. Elena Moro has occasionally received honoraria from Medtronic for lecturing and consulting services. Jill Ostrem receives research grant support from St Jude Medical. Fredy Revilla performs DBS Programming Training for Medtronic. Patrick Santens has received speaker’s salaries from Medtronic in the past. Alfons Schnitzler reports no conflict of interest. Stephen Tisch reports no conflict of interest. Francesc Valldeoriola has received honoraria from Medtronic for organising teaching courses and giving lectures. Jan Vesper has received honoraria from Medtronic for consulting services. Jens Volkmann has received speaking and advisory honoraria from Medtronic Inc. Dirk Woitalla reports no conflict of interest. Selcuk Peker reports no conflict of interest.
PY - 2010/3
Y1 - 2010/3
N2 - Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty with speech and swallowing, pain and respiratory distress. Several case reports and one case series have been published concerning therapeutic outcome of pallidal deep brain stimulation in dystonia caused by neurodegeneration with brain iron degeneration, reporting mostly favourable outcomes. However, with case studies, there may be a reporting bias towards favourable outcome. Thus, we undertook this multi-centre retrospective study to gather worldwide experiences with bilateral pallidal deep brain stimulation in patients with neurodegeneration with brain iron accumulation. A total of 16 centres contributed 23 patients with confirmed neurodegeneration with brain iron accumulation and bilateral pallidal deep brain stimulation. Patient details including gender, age at onset, age at operation, genetic status, magnetic resonance imaging status, history and clinical findings were requested. Data on severity of dystonia (Burke Fahn Marsden Dystonia Rating Scale-Motor Scale, Barry Albright Dystonia Scale), disability (Burke Fahn Marsden Dystonia Rating Scale-Disability Scale), quality of life (subjective global rating from 1 to 10 obtained retrospectively from patient and caregiver) as well as data on supportive therapy, concurrent pharmacotherapy, stimulation settings, adverse events and side effects were collected. Data were collected once preoperatively and at 2-6 and 9-15 months postoperatively. The primary outcome measure was change in severity of dystonia. The mean improvement in severity of dystonia was 28.5 at 2-6 months and 25.7 at 9-15 months. At 9-15 months postoperatively, 66.7 of patients showed an improvement of 20 or more in severity of dystonia, and 31.3 showed an improvement of 20 or more in disability. Global quality of life ratings showed a median improvement of 83.3 at 9-15 months. Severity of dystonia preoperatively and disease duration predicted improvement in severity of dystonia at 2-6 months; this failed to reach significance at 9-15 months. The study confirms that dystonia in neurodegeneration with brain iron accumulation improves with bilateral pallidal deep brain stimulation, although this improvement is not as great as the benefit reported in patients with primary generalized dystonias or some other secondary dystonias. The patients with more severe dystonia seem to benefit more. A well-controlled, multi-centre prospective study is necessary to enable evidence-based therapeutic decisions and better predict therapeutic outcomes.
AB - Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty with speech and swallowing, pain and respiratory distress. Several case reports and one case series have been published concerning therapeutic outcome of pallidal deep brain stimulation in dystonia caused by neurodegeneration with brain iron degeneration, reporting mostly favourable outcomes. However, with case studies, there may be a reporting bias towards favourable outcome. Thus, we undertook this multi-centre retrospective study to gather worldwide experiences with bilateral pallidal deep brain stimulation in patients with neurodegeneration with brain iron accumulation. A total of 16 centres contributed 23 patients with confirmed neurodegeneration with brain iron accumulation and bilateral pallidal deep brain stimulation. Patient details including gender, age at onset, age at operation, genetic status, magnetic resonance imaging status, history and clinical findings were requested. Data on severity of dystonia (Burke Fahn Marsden Dystonia Rating Scale-Motor Scale, Barry Albright Dystonia Scale), disability (Burke Fahn Marsden Dystonia Rating Scale-Disability Scale), quality of life (subjective global rating from 1 to 10 obtained retrospectively from patient and caregiver) as well as data on supportive therapy, concurrent pharmacotherapy, stimulation settings, adverse events and side effects were collected. Data were collected once preoperatively and at 2-6 and 9-15 months postoperatively. The primary outcome measure was change in severity of dystonia. The mean improvement in severity of dystonia was 28.5 at 2-6 months and 25.7 at 9-15 months. At 9-15 months postoperatively, 66.7 of patients showed an improvement of 20 or more in severity of dystonia, and 31.3 showed an improvement of 20 or more in disability. Global quality of life ratings showed a median improvement of 83.3 at 9-15 months. Severity of dystonia preoperatively and disease duration predicted improvement in severity of dystonia at 2-6 months; this failed to reach significance at 9-15 months. The study confirms that dystonia in neurodegeneration with brain iron accumulation improves with bilateral pallidal deep brain stimulation, although this improvement is not as great as the benefit reported in patients with primary generalized dystonias or some other secondary dystonias. The patients with more severe dystonia seem to benefit more. A well-controlled, multi-centre prospective study is necessary to enable evidence-based therapeutic decisions and better predict therapeutic outcomes.
KW - Deep brain stimulation
KW - Dystonia
KW - Globus pallidus
KW - Neurodegeneration with brain iron accumulation
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U2 - 10.1093/brain/awq022
DO - 10.1093/brain/awq022
M3 - Article
C2 - 20207700
AN - SCOPUS:77950234474
SN - 0006-8950
VL - 133
SP - 701
EP - 712
JO - Brain
JF - Brain
IS - 3
ER -