L<scp>MNB</scp>1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course

Finnsson, Johannes; Sundblom, Jimmy; Dahl, Niklas; Melberg, Atle; Raininko, Raili

doi:10.1002/ana.24452

Cited by 34 publications

(48 citation statements)

References 34 publications

(107 reference statements)

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“…In a series of 23 LMNB1 -mutated patients with typical cerebral MRI findings, spinal cord atrophy and pathological white matter signal hyperintensities were found in all the 14 patients who underwent spinal MRI, even at an asymptomatic stage of the disease 11. These subjects displayed posterior column hyperintensity on T2-weighted sequences, often associated with a more widespread involvement of the whole cord white matter, probably reflecting loss of myelinated fibres 11…”

Section: Genetic and Metabolic Causes Of Medullary Signal Alterationsmentioning

confidence: 96%

Spinal cord involvement in adult-onset metabolic and genetic diseases

Marelli

Salsano

Politi

et al. 2018

J Neurol Neurosurg Psychiatry

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In adulthood, spinal cord MRI abnormalities such as T2-weighted hyperintensities and atrophy are commonly associated with a large variety of causes (inflammation, infections, neoplasms, vascular and spondylotic diseases). Occasionally, they can be due to rare metabolic or genetic diseases, in which the spinal cord involvement can be a prominent or even predominant feature, or a secondary one. This review focuses on these rare diseases and associated spinal cord abnormalities, which can provide important but over-ridden clues for the diagnosis. The review was based on a PubMed search (search terms: 'spinal cord' AND 'leukoencephalopathy' OR 'leukodystrophy'; 'spinal cord' AND 'vitamin'), further integrated according to the authors' personal experience and knowledge. The genetic and metabolic diseases of adulthood causing spinal cord signal alterations were identified and classified into four groups: (1) leukodystrophies; (2) deficiency-related metabolic diseases; (3) genetic and acquired toxic/metabolic causes; and (4) mitochondrial diseases. A number of genetic and metabolic diseases of adulthood causing spinal cord atrophy without signal alterations were also identified. Finally, a classification based on spinal MRI findings is presented, as well as indications about the diagnostic work-up and differential diagnosis. Some of these diseases are potentially treatable (especially if promptly recognised), while others are inherited as autosomal dominant trait. Therefore, a timely diagnosis is needed for a timely therapy and genetic counselling. In addition, spinal cord may be the main site of pathology in many of these diseases, suggesting a tempting role for spinal cord abnormalities as surrogate MRI biomarkers.

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Section: Genetic and Metabolic Causes Of Medullary Signal Alterationsmentioning

confidence: 96%

Spinal cord involvement in adult-onset metabolic and genetic diseases

Marelli

Salsano

Politi

et al. 2018

J Neurol Neurosurg Psychiatry

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“…These include not only neurodevelopmental disorders such as Cornelia de Lange Syndrome (CdLS) 7, 34, 35 , but also adult-onset progressive demyelination syndromes 36 (Table 1). Neurodevelopmental disease phenotypes in CdLS include intellectual disability, psychosis and other psychiatric maladies.…”

Section: Introductionmentioning

confidence: 99%

Spatial genome organization and cognition

et al. 2016

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Non-random chromosomal conformations, including promoter--enhancer loopings that bypass kilo- or megabases of linear genome, provide a critical layer of transcriptional regulation, and move vast amounts of non-coding sequence into the physical proximity of genes that are important for neurodevelopment, cognition and behavior. Activity-regulated changes of the neuronal ‘3D genome’ could govern transcriptional mechanisms associated with learning and plasticity, and loop-bound intergenic and intronic non-coding sequences have been implicated in psychiatric and adult-onset neurodegenerative disease. Recent studies have begun to clarify the roles of spatial genome organization in normal and abnormal cognition.

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“…These include neurodevelopmental disorders such as Cornelia de Lange Syndrome (CdLS) 39, 44, 45 and adult-onset progressive demyelination syndromes 46 . Neurodevelopmental disease phenotypes in CdLS include intellectual disability, psychosis and other psychiatric maladies.…”

Section: Regulation Of Chromosomal Conformations In Neurodevelopmentmentioning

confidence: 99%

Chromosomal Conformations and Epigenomic Regulation in Schizophrenia

Rajarajan

Jiang

Kassim

et al. 2018

Progress in Molecular Biology and Translational Science

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Chromosomal conformations, including promoter-enhancer loops, provide a critical regulatory layer for the transcriptional machinery. Therefore, schizophrenia, a common psychiatric disorder associated with broad changes in neuronal gene expression in prefrontal cortex and other brain regions implicated in psychosis, could be associated with alterations in higher-order chromatin. Here, we review early studies on spatial genome organization in the schizophrenia postmortem brain and discuss how integrative approaches using cell culture and animal model systems could gain deeper insight into the potential roles of higher-order chromatin for the neurobiology of and novel treatment avenues for common psychiatric disease.

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LMNB1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course

Cited by 34 publications

References 34 publications

Spinal cord involvement in adult-onset metabolic and genetic diseases

Spinal cord involvement in adult-onset metabolic and genetic diseases

Spatial genome organization and cognition

Chromosomal Conformations and Epigenomic Regulation in Schizophrenia

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