Combining genetics, neuropsychology and neuroimaging to improve understanding of brain involvement in Duchenne muscular dystrophy - a narrative review.

Neuromuscular Disorders : NMD
Nathalie Doorenweerd

Abstract

Duchenne muscular dystrophy is a multifactorial disease including a cognitive phenotype. It is caused by mutations in the X-chromosomal DMD gene from which dystrophin is synthesized. Multiple isoforms of dystrophin have been identified. The full length dystrophin isoform Dp427m is expressed predominantly in muscle. Other isoforms include: Dp427c, Dp427p, Dp260, Dp140, Dp116, Dp71 and Dp40. The majority of these isoforms are expressed in brain and several hypotheses exist on their role in subtypes of neurons and astrocytes. However, their function in relation to cognition remains unclear. Unlike progressive muscle wasting, cognitive involvement is not seen in all DMD patients and the severity varies greatly. To achieve a better understanding of brain involvement in DMD, a multidisciplinary approach is required. Here, we review the latest findings on dystrophin isoform expression in the brain; specific DMD-associated learning and behavioural difficulties; and imaging and spectroscopy findings relating to brain structure, networks, perfusion and metabolism. The main challenge lies in determining links between these different findings. If we can determine which factors play a role in the differentiation between severe and minor cog...Continue Reading

Citations

Feb 20, 2021·Nature Reviews. Disease Primers·Dongsheng DuanAnnemieke Aartsma-Rus
Apr 24, 2021·Investigative Ophthalmology & Visual Science·Mirella Telles Salgueiro BarboniDora Fix Ventura
Nov 3, 2021·Journal of Molecular Neuroscience : MN·Malihe MohamadianMohsen Naseri
Nov 19, 2021·Frontiers in Pharmacology·Theodora MarkatiLaurent Servais

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