TY  - JOUR
A1  - Lulé, Dorothée
A1  - Kübler, Andrea
A1  - Ludolph, Albert C.
T1  - Ethical principles in patient-centered medical care to support quality of life in amyotrophic lateral sclerosis
JF  - Frontiers in Neurology
N2  - It is one of the primary goals of medical care to secure good quality of life (QoL) while prolonging survival. This is a major challenge in severe medical conditions with a prognosis such as amyotrophic lateral sclerosis (ALS). Further, the definition of QoL and the question whether survival in this severe condition is compatible with a good QoL is a matter of subjective and culture-specific debate. Some people without neurodegenerative conditions believe that physical decline is incompatible with satisfactory QoL. Current data provide extensive evidence that psychosocial adaptation in ALS is possible, indicated by a satisfactory QoL. Thus, there is no fatalistic link of loss of QoL when physical health declines. There are intrinsic and extrinsic factors that have been shown to successfully facilitate and secure QoL in ALS which will be reviewed in the following article following the four ethical principles (1) Beneficence, (2) Non-maleficence, (3) Autonomy and (4) Justice, which are regarded as key elements of patient centered medical care according to Beauchamp and Childress. This is a JPND-funded work to summarize findings of the project NEEDSinALS (www.NEEDSinALS.com) which highlights subjective perspectives and preferences in medical decision making in ALS.
KW  - ethics
KW  - quality of life (QoL)
KW  - care
KW  - amyotrophic lateral sclerosis (ALS)
KW  - well-being
KW  - depression
KW  - coping
KW  - psychosocial adaptation
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-196239
SN  - 1664-2295
VL  - 10
ER  - 
TY  - JOUR
A1  - Albrecht, Franziska
A1  - Mueller, Karsten
A1  - Ballarini, Tommaso
A1  - Lampe, Leonie
A1  - Diehl-Schmid, Janine
A1  - Fassbender, Klaus
A1  - Fliessbach, Klaus
A1  - Jahn, Holger
A1  - Jech, Robert
A1  - Kassubek, Jan
A1  - Kornhuber, Johannes
A1  - Landwehrmeyer, Bernhard
A1  - Lauer, Martin
A1  - Ludolph, Albert C.
A1  - Lyros, Epameinondas
A1  - Prudlo, Johannes
A1  - Schneider, Anja
A1  - Synofzik, Matthis
A1  - Wiltfang, Jens
A1  - Danek, Adrian
A1  - Otto, Markus
A1  - Schroeter, Matthias L.
T1  - Unraveling corticobasal syndrome and alien limb syndrome with structural brain imaging
JF  - Cortex
N2  - Alien limb phenomenon is a rare syndrome associated with a feeling of non-belonging and disowning toward one's limb. In contrast, anarchic limb phenomenon leads to involuntary but goal-directed movements. Alien/anarchic limb phenomena are frequent in corticobasal syndrome (CBS), an atypical parkinsonian syndrome characterized by rigidity, akinesia, dystonia, cortical sensory deficit, and apraxia. The structure function relationship of alien/anarchic limb was investigated in multi centric structural magnetic resonance imaging (MRI) data. Whole-group and single subject comparisons were made in 25 CBS and eight CBS-alien/anarchic limb patients versus controls. Support vector machine was used to see if CBS with and without alien/anarchic limb could be distinguished by structural MRI patterns. Whole-group comparison of CBS versus controls revealed asymmetric frontotemporal atrophy. CBS with alien/anarchic limb syndrome versus controls showed frontoparietal atrophy including the supplementary motor area contralateral to the side of the affected limb. Exploratory analysis identified frontotemporal regions encompassing the pre-/and postcentral gyrus as compromised in CBS with alien limb syndrome. Classification of CBS patients yielded accuracies of 79%. CBS-alien/anarchic limb syndrome was differentiated from CBS patients with an accuracy of 81%. Predictive differences were found in the cingulate gyrus spreading to frontomedian cortex, postcentral gyrus, and temporoparietoocipital regions. We present the first MRI-based group analysis on CBS-alien/anarchic limb. Results pave the way for individual clinical syndrome prediction and allow understanding the underlying neurocognitive architecture. (C) 2019 The Authors. Published by Elsevier Ltd. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
KW  - Alien limb syndrome
KW  - Anarchic limb syndrome
KW  - Corticobasal syndrome
KW  - Diagnosis prediction
KW  - Support vector machine
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-221040
VL  - 117
ER  - 
TY  - JOUR
A1  - Dekker, Annelot M.
A1  - Diekstra, Frank P.
A1  - Pulit, Sara L.
A1  - Tazelaar, Gijs H. P.
A1  - van der Spek, Rick A.
A1  - van Rheenen, Wouter
A1  - van Eijk, Kristel R.
A1  - Calvo, Andrea
A1  - Brunetti, Maura
A1  - Van Damme, Philip
A1  - Robberecht, Wim
A1  - Hardiman, Orla
A1  - McLaughlin, Russell
A1  - Chiò, Adriano
A1  - Sendtner, Michael
A1  - Ludolph, Albert C.
A1  - Weishaupt, Jochen H.
A1  - Pardina, Jesus S. Mora
A1  - van den Berg, Leonard H.
A1  - Veldink, Jan H.
T1  - Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis
JF  - Scientific Reports
N2  - Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects 1 in ~350 individuals. Genetic association studies have established ALS as a multifactorial disease with heritability estimated at ~61%, and recent studies show a prominent role for rare variation in its genetic architecture. To identify rare variants associated with disease onset we performed exome array genotyping in 4,244 cases and 3,106 controls from European cohorts. In this largest exome-wide study of rare variants in ALS to date, we performed single-variant association testing, gene-based burden, and exome-wide individual set-unique burden (ISUB) testing to identify single or aggregated rare variation that modifies disease risk. In single-variant testing no variants reached exome-wide significance, likely due to limited statistical power. Gene-based burden testing of rare non-synonymous and loss-of-function variants showed NEK1 as the top associated gene. ISUB analysis did not show an increased exome-wide burden of deleterious variants in patients, possibly suggesting a more region-specific role for rare variation. Complete summary statistics are released publicly. This study did not implicate new risk loci, emphasizing the immediate need for future large-scale collaborations in ALS that will expand available sample sizes, increase genome coverage, and improve our ability to detect rare variants associated to ALS.
KW  - amyotrophic lateral sclerosis
KW  - genome-wide association studies
Y1  - 2019
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-223686
VL  - 9
ER  -