Clinical approach to the patient with neurogenetic disease

Bird, Thomas D.; Smith, Corrie O.

doi:10.1016/b978-0-444-63233-3.00001-4

Cited by 7 publications

(2 citation statements)

References 8 publications

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“…From the clinical point of view, similar considerations hold true for neurological diseases as well. In particular, differential diagnosis between types of neurodegenerative conditionsfor instance, mild cognitive impairment, Alzheimer's disease (AD) and frontotemporal lobar degeneration -is often challenging (Bird and Smith , 2018;Padovani et al, 2013). Several biomarkers, such as amyloid-β (Aβ) plaques, neurofibrillary tangles and other pathological deposits, have been proposed to differentiate these types of disorders.…”

Section: Introductionmentioning

confidence: 99%

The alteration landscape of the cerebral cortex

et al. 2019

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Growing evidence is challenging the assumption that brain disorders are diagnostically clear-cut categories. Transdiagnostic studies show that a set of cerebral areas is frequently altered in a variety of psychiatric as well as neurological syndromes. In order to provide a map of the altered areas in the pathological brain we devised a metric, called alteration entropy (A-entropy), capable of denoting the "structural alteration variety" of an altered region. Using the whole voxel-based morphometry database of BrainMap, we were able to differentiate the brain areas exhibiting a high degree of overlap between different neuropathologies (or high value of A-entropy) from those exhibiting a low degree of overlap (or low value of A-entropy). The former, which are parts of large-scale brain networks with attentional, emotional, salience, and premotor functions, are thought to be more vulnerable to a great range of brain diseases; while the latter, which include the sensorimotor, visual, inferior temporal, and supramarginal regions, are thought to be more informative about the specific impact of brain diseases. Since low A-entropy areas appear to be altered by a smaller number of brain disorders, they are more informative than the areas characterized by high values of A-entropy. It is also noteworthy that even the areas showing low values of A-entropy are substantially altered by a variety of brain disorders. In fact, no cerebral area appears to be only altered by a specific disorder. Our study shows that the overlap of areas with high A-entropy provides support for a transdiagnostic approach to brain disorders but, at the same time, suggests that fruitful differences can be traced among brain diseases, as some areas can exhibit an alteration profile more specific to certain disorders than to others.

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Section: Introductionmentioning

confidence: 99%

The alteration landscape of the cerebral cortex

et al. 2019

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“…On this basis, a genetic test might be warranted even with a negative family history 49 ; for example, this could be the case for patients with an early age at onset, a particular clinical syndrome that has a high rate of genetic causes, or a family history with likely diagnostic uncertainty owing to historical or geographical factors. Symptoms of other family members can also add to the diagnostic picture 50 and enable testing and diagnosis earlier in the course of the disease when symptoms can be still be equivocal but treatments are likely to be most effective.…”

Section: Table 1)mentioning

confidence: 99%

Genetic testing in dementia — utility and clinical strategies

et al. 2020

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Technology for clinical genetic testing in dementia disorders has advanced rapidly but remains to be more widely implemented in practice. A positive genetic test offers a precise molecular diagnosis, can help members of an affected family to determine personal risk, provides a basis for reproductive choices and offers options for clinical trials. The likelihood of identifying a genetic cause of dementia depends on the clinical condition, the age at onset and family history. Attempts to match phenotypes to single genes are mostly inadvisable owing to clinical overlap between the dementias, pleiotropy and concurrent mutations. Currently, the appropriate genetic test in most cases of dementia is next-generation sequencing gene panels, though some conditions necessitate specific types of test, such as repeat expansion testing. Whole-exome and whole-genome sequencing are becoming financially feasible but raise complex issues, such as variants of uncertain significance, secondary findings and the potential for re-analysis in light of new information. Capacity for data analysis and counselling is already restricting provision of genetic testing, and the need for both will increase. Patients and their relatives need to be given reliable information to enable them to make informed choices about tests, treatments and data sharing; the ability of patients with dementia to make decisions must be taken into account when providing this information.

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Genetic Diagnosis and Counseling in Muscular Dystrophies

Smith,

Wicklund

2023

Current Clinical Neurology

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Clinical approach to the patient with neurogenetic disease

Cited by 7 publications

References 8 publications

The alteration landscape of the cerebral cortex

The alteration landscape of the cerebral cortex

Genetic testing in dementia — utility and clinical strategies

Genetic Diagnosis and Counseling in Muscular Dystrophies

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