Cognitive impairment in neuromuscular diseases: A systematic review

Abstract

Neuromuscular diseases are multifactorial pathologies characterized by extensive muscle fiber damage that leads to the activation of satellite cells and to the exhaustion of their pool, with consequent impairment of neurobiological aspects, such as cognition and motor control. To review the knowledge and obtain a broad view of the cognitive impairment on Neuromuscular Diseases. Cognitive impairment in neuromuscular disease was explored; a literature search up to October 2017 was conducted, including experimental studies, case reports and reviews written in English. Keywords included Cognitive Impairment, Neuromuscular Diseases, Motor Neuron Diseases, Dystrophinopathies and Mitochondrial Disorders. Several cognitive evaluation scales, neuroimaging scans, genetic analysis and laboratory applications in neuromuscular diseases, especially when it comes to the Motor Neuron Diseases, Dystrophinopathies and Mitochondrial Disorders. In addition, organisms model using rats in the genetic analysis and laboratory applications to verify the cognitive and neuromuscular impacts. Several studies indicate that congenital molecular alterations in neuromuscular diseases promote cognitive dysfunctions. Understanding these mechanisms may in the future guide the proper management of the patient, evaluation, establishment of prognosis, choice of treatment and development of innovative interventions such as gene therapy.

Differences in Societal Participation Across Diagnostic Groups: Secondary Analyses of 8 Studies Using the Utrecht Scale for Evaluation of Rehabilitation-Participation

“…This may explain their lower levels of participation within this study. [40][41][42] This same combination of impairments was found in a study with persons with traumatic ABI. Almost half of the persons in that study experienced physical problems , in combination with cognitive, behavioural and social problems or impairments.…”

Dystrophin deficiency leads to dysfunctional glutamate clearance in iPSC derived astrocytes

“…In the CNS, the dystrophin isoforms Dp427c, Dp140, and Dp71 are expressed mostly in blood vessels and astrocytes 8,9 . While indirect evidence exists, linking the loss of different dystrophin isoforms with varying phenotypic outcomes such as, neuromuscular synaptic dysfunction 10 , decrease in whole brain volume 11,12 and altered cerebral architecture 13,14 , all leading to cognitive issues 15 , no causal molecular and cellular basis have been described to date. Whereas the majority of post-mortem brain studies in autism have focused on uncovering neuronal abnormalities, recent evidence has demonstrated alterations in both microglial and astrocytic markers within the autistic brain 16–19 .…”

The Dog Model in the Spotlight: Legacy of a Trustful Cooperation

“…Prospective cognitive evaluation: Aged dogs can spontaneously develop progressive degenerative, age-related cerebral changes associated with impairment of cognitive functions and for this reason, are also being recognized as relevant models for dementia of the Alzheimer’s type [201]. In some human NMDs, brain function disorders and cognitive impairments are widely described, in particular in DMD and ALS (reviewed in [202]), yet these features have only been studied on rodents so far [99]. Because of common selected genomic signatures including genes involved in neurological traits [95], dogs represent a relevant model in cognition, complementary to the rat in some instances.…”