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

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

doi:10.1007/s00415-019-09473-z

Cited by 67 publications

(47 citation statements)

References 71 publications

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“…Diffusion tensor imaging is a development of standard MRI permitting assessment of the integrity of large white matter tracts through the surrogate marker of the directionality of water diffusion. This suggests greater white matter damage in the region of the central corpus callosum in patients with PLS, but this currently lacks the sensitivity and specificity for the diagnosis of individual patients36–38 (figure 1). Cerebellar involvement,38 39 corticospinal tract fluid attenuated inversion recovery (FLAIR) hyperintensity40 and quantitative susceptibility mapping of iron deposition in the motor cortex41 have all been noted as increased in PLS.…”

Section: Introductionmentioning

confidence: 99%

“…This suggests greater white matter damage in the region of the central corpus callosum in patients with PLS, but this currently lacks the sensitivity and specificity for the diagnosis of individual patients36–38 (figure 1). Cerebellar involvement,38 39 corticospinal tract fluid attenuated inversion recovery (FLAIR) hyperintensity40 and quantitative susceptibility mapping of iron deposition in the motor cortex41 have all been noted as increased in PLS. The continued development of volumetric spinal cord imaging and its integration with cerebral structural measures may offer greater potential for distinguishing PLS cases 42…”

Section: Introductionmentioning

confidence: 99%

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Primary lateral sclerosis: consensus diagnostic criteria

Turner

Barohn

Corcia

et al. 2020

J Neurol Neurosurg Psychiatry

154

150

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Primary lateral sclerosis (PLS) is a neurodegenerative disorder of the adult motor system. Characterised by a slowly progressive upper motor neuron syndrome, the diagnosis is clinical, after exclusion of structural, neurodegenerative and metabolic mimics. Differentiation of PLS from upper motor neuron-predominant forms of amyotrophic lateral sclerosis remains a significant challenge in the early symptomatic phase of both disorders, with ongoing debate as to whether they form a clinical and histopathological continuum. Current diagnostic criteria for PLS may be a barrier to therapeutic development, requiring long delays between symptom onset and formal diagnosis. While new technologies sensitive to both upper and lower motor neuron involvement may ultimately resolve controversies in the diagnosis of PLS, we present updated consensus diagnostic criteria with the aim of reducing diagnostic delay, optimising therapeutic trial design and catalysing the development of disease-modifying therapy.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Primary lateral sclerosis: consensus diagnostic criteria

Turner

Barohn

Corcia

et al. 2020

J Neurol Neurosurg Psychiatry

154

150

View full text Add to dashboard Cite

show abstract

“… [10] The study was specifically designed to characterise thalamus degeneration in ALS and PLS and identify distinguishing imaging characteristics between the two conditions. [ 17 , 18 ] Total intracranial volumes (TIV) were estimated using FSL-FIRST of the FMRIB's Software Library (FSL). The thalamus was segmented into 25 sub-regions using a Bayesian parcellation algorithm based on a probabilistic atlas [19] .…”

Section: Experimental Design Materials and Methodsmentioning

confidence: 99%

MRI data confirm the selective involvement of thalamic and amygdalar nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis

et al. 2020

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A standardised imaging protocol was implemented to evaluate disease burden in specific thalamic and amygdalar nuclei in 133 carefully phenotyped and genotyped motor neuron disease patients. “Switchboard malfunction in motor neuron diseases: selective pathology of thalamic nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis” [1] “Amygdala pathology in amyotrophic lateral sclerosis and primary lateral sclerosis” [2] Raw volumetric data, group comparisons, effect sizes and percentage change are presented. Both ALS and PLS patients exhibited focal thalamus atrophy in ventral lateral and ventral anterior regions revealing extrapyramidal motor degeneration. Reduced accessory basal nucleus and cortical nucleus volumes were noted in the amygdala of C9orf72 negative ALS patients compared to healthy controls. ALS patients carrying the GGGGCC hexanucleotide repeats in C9orf72 exhibited preferential pathology in the mediodorsal-paratenial-reuniens thalamic nuclei and in the lateral nucleus and cortico-amygdaloid transition area of the amygdala. Considerable thalamic atrophy was observed in the sensory nuclei and lateral geniculate region of PLS patients. Our data demonstrate genotype-specific patterns of thalamus and amygdala involvement in ALS and a distinct disease-burden pattern in PLS. The dataset may be utilised for validation purposes, meta-analyses and the interpretation of thalamic and amygdalar profiles from other ALS genotypes.

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“…The recent diagnostic criteria [5] introduced the category of ‘probable PLS’ for patients with 2–4 years symptom duration to stimulate research into early phase PLS. Existing imaging studies in PLS invariably focus on established PLS cohorts with long symptom duration [6] , [7] , [8] , [9] , [10] and disease burden in early PLS is poorly characterised [ 2 , 11 , 12 ]. In this dataset ( Table 1 ) we present grey and white matter imaging metrics in 32 patients with ‘definite PLS’, 7 patients with ‘probable PLS’ and 100 healthy controls.…”

Section: Data Descriptionmentioning

confidence: 99%

Imaging and clinical data indicate considerable disease burden in ‘probable’ PLS: Patients with UMN symptoms for 2–4 years

et al. 2020

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Primary lateral sclerosis (PLS) is an adult-onset upper motor neuron disease manifesting in progressive spasticity and gradually resulting in considerably motor disability. In the absence of early disease-specific diagnostic indicators, the majority of patients with PLS face a circuitous diagnostic journey. Until the recent publication of consensus diagnostic criteria, 4-year symptom duration was required to establish the diagnosis. The new diagnostic criteria introduced the category of ‘probable PLS’ for patients with a symptom duration of 2–4 years. “Evolving diagnostic criteria in primary lateral sclerosis: The clinical and radiological basis of "probable PLS" [1] . This dataset provides radiological metrics in a cohort of ‘probable PLS’ patients, ‘definite PLS’ patients and age-matched healthy controls. Region-of-interest radiological data include diffusivity metrics in the corticospinal tracts and corpus callosum as well as mean cortical thickness values in the pre- and para-central gyri in each hemisphere. Our data indicate considerable grey matter and relatively limited white matter involvement in ‘probable PLS’ which supports the rationale for this diagnostic category as a clinically useful entity. The introduction of this diagnostic category will likely facilitate the timely recruitment of PLS patients into research studies and pharmacological trials before widespread neurodegenerative change ensues.

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

Cited by 67 publications

References 71 publications

Primary lateral sclerosis: consensus diagnostic criteria

Primary lateral sclerosis: consensus diagnostic criteria

MRI data confirm the selective involvement of thalamic and amygdalar nuclei in amyotrophic lateral sclerosis and primary lateral sclerosis

Imaging and clinical data indicate considerable disease burden in ‘probable’ PLS: Patients with UMN symptoms for 2–4 years

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