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

Chipika, Rangariroyashe H.; Siah, We Fong; Shing, Stacey Li Hi; Finegan, Eoin; McKenna, Mary C.; Christidi, Foteini; Chang, Kai Ming; Karavasilis, Efstratios; Vajda, Alice; Hengeveld, Jennifer C.; Doherty, Mark A.; Donaghy, Colette; Hutchinson, Siobhan; McLaughlin, Russell L.; Hardiman, Orla; Bede, Peter

doi:10.1016/j.dib.2020.106246

Cited by 18 publications

(15 citation statements)

References 20 publications

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“…Patients with ALS exhibited GM volume reduction in the motor cortex and the thalamus as shown in a longitudinal study ( 8 ). In a recent large cohort MRI-based study, Chipika and colleagues have shown atrophy of thalamic nuclei in both the chromosome 9 open reading frame 72 (C9orf72) carrier and noncarrier patients with ALS, demonstrating thalamus as a potential pathological area in the brain ( 9 ).…”

Section: Introductionmentioning

confidence: 99%

Beyond the Motor Cortex: Thalamic Iron Deposition Accounts for Disease Severity in Amyotrophic Lateral Sclerosis

Zhu

Wen

et al. 2022

Front. Neurol.

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ObjectivePrevious studies have reliably identified iron deposition in the motor cortex as potential pathogenesis of amyotrophic lateral sclerosis (ALS). Here, we intended to investigate iron deposition, gray matter (GM) atrophy, and their associations with disease severity in the motor cortex and the thalamus in patients with ALS.MethodsA total of 34 patients with ALS (age 51.31 ± 8.24 years, 23 males) and 34 nonneurological controls (age 50.96 ± 9.35 years, 19 males) were enrolled between 2018 and 2020. The Revised ALS Functional Rating Scale (ALSFRS-R) and the Penn upper motor neuron (UMN) score were measured. MRI data included quantitative susceptibility mapping (QSM) for iron deposition and three-dimensional (3D) T1 for gray matter volume. After a between-group comparison, Pearson's correlation coefficient was used for identifying correlations of iron deposition, GM volume, and clinical measurements.ResultsThe two-sample t-tests revealed increased iron deposition in the left precentral gyrus (peak voxel T = 4.78, PSVC = 0.03) and the thalamus (peak voxel: right: T = 6.38, PSVC < 0.001; left: T = 4.64, PSVC = 0.02) in patients with ALS. GM volume of the precentral gyrus (T = −2.42, P = 0.02) and the bilateral thalamus (T = −4.10, P < 0.001) were reduced. Negative correlations were found between the increased QSM values and the decreased GM volume (P < 0.04, one-tailed) in patients with ALS. Iron deposition in the left precentral gyrus was positively correlated with the UMN score (R = 0.40, P = 0.02) and the GM volume was negatively correlated with the UMN score (R = −0.48, P = 0.004). Negative correlation between thalamic iron deposition and the ALSFRS-R (R = −0.36, P = 0.04) score was observed.DiscussionIron deposition in the thalamus, in addition to the motor cortex, is accompanied by GM atrophy and is associated with disease severity in patients with ALS, indicating that the thalamus is also a pathological region in patients with ALS.

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Section: Introductionmentioning

confidence: 99%

Beyond the Motor Cortex: Thalamic Iron Deposition Accounts for Disease Severity in Amyotrophic Lateral Sclerosis

Zhu

Wen

et al. 2022

Front. Neurol.

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“…Reduced volumes were noted in the amygdala in ALS patients without C9orf72; however, in ALS patients carrying the GGGGCC hexanucleotide repeats in C9orf72 , abnormalities in thalamic and amygdala nuclei were observed. These data demonstrate genotype-specific patterns in ALS [ 27 ].…”

Section: Classificationmentioning

confidence: 74%

“…This phenotype displays a relatively long survival [ 26 ]. It has been recently published that both ALS and PLS patients exhibited focal thalamus atrophy showing extrapyramidal motor degeneration [ 27 ]. Reduced volumes were noted in the amygdala in ALS patients without C9orf72; however, in ALS patients carrying the GGGGCC hexanucleotide repeats in C9orf72 , abnormalities in thalamic and amygdala nuclei were observed.…”

Section: Classificationmentioning

confidence: 99%

Diagnostics of Amyotrophic Lateral Sclerosis: Up to Date

̌Sťetkářová

Ehler

2021

Diagnostics

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Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by gradual loss of upper and lower motor neurons and their pathways, usually without affecting the extraocular and sphincter muscles. The cause of the disease is not yet known. It is a chain of subsequent events, ending in programmed cell death in selective neuronal subpopulations. The prognosis for survival is rather short with a median of 2 to 4 years. Survival may be prolonged based on prompt diagnosis, ALS subtype and proper management with supportive treatment (tracheostomy, gastrostomy, etc.). According to the clinical picture, the typical form of ALS with upper and lower motoneuron involvement and progressive bulbar paralysis with bulbar muscle involvement is observed. The ALS form with progressive muscle atrophy, where only the lower motoneuron is affected, and primary lateral sclerosis with only upper motoneuron damage are rare. Familiar forms of ALS (FALS) associated with specific genes (the most common is C9orf72) have been discovered. FALS is usually associated with dementia (frontotemporal lobar dementia, FTLD), behavioral disorders, cognitive dysfunction and impairment of executive functions. The diagnosis of ALS is determined by excluding other conditions and utilizing clinical examinations, laboratory and genetic tests and nerve conduction/needle electromyography studies (EMG). Needle EMG records abnormal activities at rest and looks for neurogenic patterns during muscle contraction. Motor evoked potentials after transcranial magnetic stimulation remain the test of choice to identify impairment of upper motor neurons. New biochemical, neurophysiological and morphological biomarkers are extensively studied as early diagnostic and prognostic factors and have implications for clinical trials, research and drug development.

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“…These findings support the recent PLS consensus classification system and argues for earlier intervention/inclusion into clinical trials [ 55 , 57 , 58 , 59 ]. Another volumetric study comparing 100 patients with ALS with 33 PLS patients and 100 controls found significant volumetric differences between subgroups with PLS, demonstrating unique volumetric losses in the thalamic sensory nuclei and lateral geniculate region and sparing of the amygdala as compared to ALS patients [ 60 ]. In addition to hyperintensity of the CST, HSP may demonstrate several unique findings identified on conventional MRI such as thinning of the corpus callosum in SPG11 or diverse findings such as leukodystrophy, hypomyelination, spinal cord or cerebellar atrophy, or hydrocephalus in complex forms of HSP [ 39 , 41 ].…”

Section: Diagnosticsmentioning

confidence: 99%

Upper Motor Neuron Disorders: Primary Lateral Sclerosis, Upper Motor Neuron Dominant Amyotrophic Lateral Sclerosis, and Hereditary Spastic Paraplegia

Fullam

Statland

2021

Brain Sciences

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Following the exclusion of potentially reversible causes, the differential for those patients presenting with a predominant upper motor neuron syndrome includes primary lateral sclerosis (PLS), hereditary spastic paraplegia (HSP), or upper motor neuron dominant ALS (UMNdALS). Differentiation of these disorders in the early phases of disease remains challenging. While no single clinical or diagnostic tests is specific, there are several developing biomarkers and neuroimaging technologies which may help distinguish PLS from HSP and UMNdALS. Recent consensus diagnostic criteria and use of evolving technologies will allow more precise delineation of PLS from other upper motor neuron disorders and aid in the targeting of potentially disease-modifying therapeutics.

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

Cited by 18 publications

References 20 publications

Beyond the Motor Cortex: Thalamic Iron Deposition Accounts for Disease Severity in Amyotrophic Lateral Sclerosis

Beyond the Motor Cortex: Thalamic Iron Deposition Accounts for Disease Severity in Amyotrophic Lateral Sclerosis

Diagnostics of Amyotrophic Lateral Sclerosis: Up to Date

Upper Motor Neuron Disorders: Primary Lateral Sclerosis, Upper Motor Neuron Dominant Amyotrophic Lateral Sclerosis, and Hereditary Spastic Paraplegia

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