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19.07.2019 | Original Communication

The clinical and radiological profile of primary lateral sclerosis: a population-based study

verfasst von: Eoin Finegan, Rangariroyashe H. Chipika, Stacey Li Hi Shing, Mark A. Doherty, Jennifer C. Hengeveld, Alice Vajda, Colette Donaghy, Russell L. McLaughlin, Niall Pender, Orla Hardiman, Peter Bede

Erschienen in: Journal of Neurology | Ausgabe 11/2019

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Abstract

Background

Primary lateral sclerosis is a progressive upper-motor-neuron disorder associated with markedly longer survival than ALS. In contrast to ALS, the genetic susceptibility, histopathological profile and imaging signature of PLS are poorly characterised. Suspected PLS patients often face considerable diagnostic delay and prognostic uncertainty.

Objective

To characterise the distinguishing clinical, genetic and imaging features of PLS in contrast to ALS and healthy controls.

Methods

A prospective population-based study was conducted with 49 PLS patients, 100 ALS patients and 100 healthy controls using genetic profiling, standardised clinical assessments and neuroimaging. Whole-brain and region-of-interest analyses were undertaken to evaluate patterns of grey and white matter degeneration.

Results

In PLS, disease burden in the motor cortex is more medial than in ALS consistent with its lower limb symptom-predominance. PLS is associated with considerable cerebellar white and grey matter degeneration and the extra-motor profile of PLS includes marked insular, inferior frontal and left pars opercularis pathology. Contrary to ALS, PLS spares the postcentral gyrus. The body and splenium of the corpus callosum are preferentially affected in PLS, in contrast to the genu involvement observed in ALS. Clinical measures show anatomically meaningful correlations with imaging metrics in a somatotopic distribution. PLS patients tested negative for C9orf72 repeat expansions, known ALS and HSP-associated genes.

Conclusions

Multiparametric imaging in PLS highlights disease-specific motor and extra-motor involvement distinct from ALS. In a condition where limited post-mortem data are available, imaging offers invaluable pathological insights. Anatomical correlations with clinical metrics confirm the biomarker potential of quantitative neuroimaging in PLS.

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Titel: The clinical and radiological profile of primary lateral sclerosis: a population-based study
verfasst von: Eoin Finegan
Rangariroyashe H. Chipika
Stacey Li Hi Shing
Mark A. Doherty
Jennifer C. Hengeveld
Alice Vajda
Colette Donaghy
Russell L. McLaughlin
Niall Pender
Orla Hardiman
Peter Bede
Publikationsdatum: 19.07.2019
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 11/2019
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-019-09473-z

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Demenzkranke durch Antipsychotika vielfach gefährdet

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Wenn Demenzkranke aufgrund von Symptomen wie Agitation oder Aggressivität mit Antipsychotika behandelt werden, sind damit offenbar noch mehr Risiken verbunden als bislang angenommen.

Update Neurologie

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Springer Medizin

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