A Review of Neuroimaging in Rare Neurodegenerative Diseases

Sobański, Michał; Zacharzewska-Gondek, A.; Waliszewska‐Prosół, Marta; Sąsiadek, Marek; Zimny, Anna; Bladowska, Joanna

doi:10.1159/000512543

Cited by 12 publications

(7 citation statements)

References 56 publications

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“…14 CMB are seen as multiple punctate T2WI hypointensities ("black dots" on susceptibility-weighted imaging -SWI), increasing in size on gradient echo (GRE) T2* (blooming effect), and are typically found outside the ischemic lesions predominantly, in the cortical/subcortical WM, thalamus, and brainstem. 14,20,21 Intracerebral hemorrhage (thalamus, lobar), and dilated Virchow-Robin spaces (VRS) may be seen (temporal…”

Section: Imaging Findings Of the Cadasilmentioning

confidence: 99%

“…Lacunar infarcts may be seen as T1WI hypointensities, or small (<1.5 cm) foci of restricted diffusion on DWI/ADC (centrum semiovale, thalamus, basal ganglia, and pons) 14 . CMB are seen as multiple punctate T2WI hypointensities (“black dots” on susceptibility‐weighted imaging ‐SWI), increasing in size on gradient echo (GRE) T2* (blooming effect), and are typically found outside the ischemic lesions predominantly, in the cortical/subcortical WM, thalamus, and brainstem 14,20,21 . Intracerebral hemorrhage (thalamus, lobar), and dilated Virchow‐Robin spaces (VRS) may be seen (temporal WM, basal ganglia) 14,22,23 .…”

Section: Disorders With the Autosomal Dominant Inheritancementioning

confidence: 99%

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Neuroimaging Pearls from theMDSCongress Video Challenge. Part 1: Genetic Disorders

Olszewska

Rawal

Fearon

et al. 2022

Movement Disord Clin Pract

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We selected several “imaging pearls” presented during the Movement Disorder Society (MDS) Video Challenge for this review. While the event, as implicated by its name, was video‐centered, we would like to emphasize the important role of imaging in making the correct diagnosis. We divided this anthology into two parts: genetic and acquired disorders. Genetic cases described herein were organized by the inheritance pattern and the focus was put on the imaging findings and differential diagnoses. Despite the overlapping phenotypes, certain described disorders have pathognomonic MRI brain findings that would provide either the “spot” diagnosis or result in further investigations leading to the diagnosis. Despite this, the diagnosis is often challenging with a broad differential diagnosis, and hallmark findings may be present for only a limited time.

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Section: Imaging Findings Of the Cadasilmentioning

confidence: 99%

Section: Disorders With the Autosomal Dominant Inheritancementioning

confidence: 99%

Neuroimaging Pearls from theMDSCongress Video Challenge. Part 1: Genetic Disorders

Olszewska

Rawal

Fearon

et al. 2022

Movement Disord Clin Pract

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“…Neurodegenerative diseases mainly occur in middle-aged and elderly people, and their incidence rate and mortality are increasing day by day, which has become a major health problem worldwide [ 1 ]. Its main feature is irreversible degeneration of neurons and (or) myelin sheath in the central or peripheral nervous system.…”

Section: Introductionmentioning

confidence: 99%

Mechanism and Therapeutic Prospect of miRNAs in Neurodegenerative Diseases

Ma,

Zhao

2023

Behavioural Neurology

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MicroRNAs (miRNAs) are the smallest class of noncoding RNAs, which widely exist in animals and plants. They can inhibit translation or overexpression by combining with mRNA and participate in posttranscriptional regulation of genes, resulting in reduced expression of target proteins, affecting the development, growth, aging, metabolism, and other physiological and pathological processes of animals and plants. It is a powerful negative regulator of gene expression. It mediates the information exchange between different cellular pathways in cellular homeostasis and stress response and regulates the differentiation, plasticity, and neurotransmission of neurons. In neurodegenerative diseases, in addition to the complex interactions between genetic susceptibility and environmental factors, miRNAs can serve as a promising diagnostic tool for diseases. They can also increase or reduce neuronal damage by regulating the body’s signaling pathways, immune system, stem cells, gut microbiota, etc. They can not only affect the occurrence of diseases and exacerbate disease progression but also promote neuronal repair and reduce apoptosis, to prevent and slow down the development of diseases. This article reviews the research progress of miRNAs on the mechanism and treatment of neurodegenerative diseases in the nervous system. This trial is registered with NCT01819545, NCT02129452, NCT04120493, NCT04840823, NCT02253732, NCT02045056, NCT03388242, NCT01992029, NCT04961450, NCT03088839, NCT04137926, NCT02283073, NCT04509271, NCT02859428, and NCT05243017.

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“…Radiological differentiation between PSP, Parkinson's disease, and multiple-system atrophy of the Parkinson type has been shown to be possible through the use of the hummingbird sign. [5][6][7] Successful differentiation has also been shown using area measurements of the midbrain 5,[8][9][10] and the more advanced (and time-consuming) Magnetic Resonance Parkinsonian Index (MRPI). 1,[11][12][13] Several of the aforementioned studies have focused on midbrain morphology in PSP as compared to other parkinsonian syndromes, but comparison to non-parkinsonian diseases with motor symptoms is scarce.…”

Section: Introductionmentioning

confidence: 99%

“…Radiological differentiation between PSP, Parkinson's disease, and multiple‐system atrophy of the Parkinson type has been shown to be possible through the use of the hummingbird sign 5–7 . Successful differentiation has also been shown using area measurements of the midbrain 5,8–10 and the more advanced (and time‐consuming) Magnetic Resonance Parkinsonian Index (MRPI) 1,11–13 …”

Section: Introductionmentioning

confidence: 99%

Midbrain area and the hummingbird sign from brain MRI in progressive supranuclear palsy and idiopathic normal pressure hydrocephalus

Virhammar

Blohmé

Nyholm

et al. 2021

Journal of Neuroimaging

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Background and Purpose:The main radiological finding in progressive supranuclear palsy (PSP) is reduced midbrain volume. Both qualitative (e.g., hummingbird sign) and quantitative (e.g., area measurements) markers have been noted. Recent studies have shown a similar reduction also in idiopathic normal pressure hydrocephalus (iNPH). The purpose was to investigate the reliability and accuracy of these markers in discriminating PSP from iNPH and controls. Methods: Eight neuroradiologists viewed sagittal MR images of the midbrain from 104 subjects: 26 PSP patients, 40 iNPH patients, and 38 healthy controls. They visually assessed whether the hummingbird sign was present or not, grading their confidence from 1 to 5. Assessments were translated into a score between +5 and -5: from maximum confidence of presence to maximum confidence of absence. A positive median score was considered to indicate hummingbird sign. Sagittal midbrain area was manually measured in each subject.Results: Seventy-seven percent of PSP patients, 65% of iNPH, and 3% of controls were visually assessed as having the hummingbird sign. Manually measured midbrain area also showed overlap between PSP and iNPH. Regarding discrimination of PSP patients, midbrain area measurements, using a cutoff of 90 mm 2 , yielded a higher area under the curve (AUC = 0.86) than visual assessment scores (AUC = 0.83), and higher reliability. Conclusions:Measuring sagittal midbrain area is more accurate and reliable than visual assessment. Due to significant overlap in appearance, a midbrain with a hummingbird sign or reduced sagittal area should raise the suspicion of PSP only after other signs of iNPH have been considered.

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A Review of Neuroimaging in Rare Neurodegenerative Diseases

Cited by 12 publications

References 56 publications

Neuroimaging Pearls from theMDSCongress Video Challenge. Part 1: Genetic Disorders

Neuroimaging Pearls from theMDSCongress Video Challenge. Part 1: Genetic Disorders

Mechanism and Therapeutic Prospect of miRNAs in Neurodegenerative Diseases

Midbrain area and the hummingbird sign from brain MRI in progressive supranuclear palsy and idiopathic normal pressure hydrocephalus

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