Frontotemporal dementia in amyotrophic lateral sclerosis: from rarity to reality?

Orsini, Marco; Ferreira, Ana Carolina Andorinho de Freitas; Nascimento, Osvaldo J. M.; Souza, Jano Alves de; Magalhães, Thaís Nascimento; Assis, Anna Carolina Damm de; Westin, Larissa Kozow; Pessôa, Bruno Lima; Oliveira, Acary Bulle; Fiorelli, Rossano; Freitas, Marcos R. G. de; Bittencourt, Juliana; Fiorelli, Stênio Karlos Alvim; Moreira, Maria Fernanda Freitas Ferreira; Ribeiro, Pedro

doi:10.4081/ni.2016.6534

Cited by 4 publications

(2 citation statements)

References 32 publications

(30 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The penetrance of C9orf72 gene expansion has not yet been determined, but it seems unlikely to be a complete penetrance. 18 , 23 , 24 TAR DNA-binding protein of 43 kDa (TDP-43), was proved to be present in neuronal cytoplasmic inclusions and dystrophic neurites in the hippocampal region and temporal cortex of patients with frontotemporal dementiamotor neuron disease.…”

Section: Discussionmentioning

confidence: 99%

Cognitive impairment in neuromuscular diseases: A systematic review

et al. 2018

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

confidence: 99%

Cognitive impairment in neuromuscular diseases: A systematic review

et al. 2018

Self Cite

View full text Add to dashboard Cite

show abstract

“…The toxins from this plant have been thought to be β -methylamino L-alanine (BMAA), a toxic amino acid from the cycad nut, and glycoside cycasin, a known carcinogen within the cycad nut. This mechanism acts as a “slow toxin” with glycoside cycasin damaging DNA in vulnerable neurones with BMAA acting as a degenerative agent [112]. Despite being relatively ineffective at crossing the BBB, free BMAA has the ability to cross the BBB [113] although other proposed mechanisms include neutral amino acid carriers [114, 115], cerebral capillary transfer [116], and protein incorporation of BMAA [117].…”

Section: Epidemiology and Underlying Insults In The Impairment Of mentioning

confidence: 99%

Pathomechanisms of Blood-Brain Barrier Disruption in ALS

Kakaroubas

Brennan²,

Keon³

et al. 2019

Neuroscience Journal

View full text Add to dashboard Cite

The blood-brain barrier (BBB) and the blood-spinal cord barrier (BSCB) are responsible for controlling the microenvironment within neural tissues in humans. These barriers are fundamental to all neurological processes as they provide the extreme nutritional demands of neural tissue, remove wastes, and maintain immune privileged status. Being a semipermeable membrane, both the BBB and BSCB allow the diffusion of certain molecules, whilst restricting others. In amyotrophic lateral sclerosis (ALS) and other neurodegenerative diseases, these barriers become hyperpermeable, allowing a wider variety of molecules to pass through leading to more severe and more rapidly progressing disease. The intention of this review is to discuss evidence that BBB hyperpermeability is potentially a disease driving feature in ALS and other neurodegenerative diseases. The various biochemical, physiological, and genomic factors that can influence BBB permeability in ALS and other neurodegenerative diseases are also discussed, in addition to novel therapeutic strategies centred upon the BBB.

show abstract

Mechanical Insufflation Exsufflation and Lung Volume Recruitment in Amyotrophic Lateral Sclerosis: a Prospective Study of the Prescription Process, the Outcomes and the Experience

McConnell

2019

View full text Add to dashboard Cite

Frontotemporal dementia in amyotrophic lateral sclerosis: from rarity to reality?

Abstract: <p><sup>not required<br /></sup></p>

Cited by 4 publications

References 32 publications

Cognitive impairment in neuromuscular diseases: A systematic review

Cognitive impairment in neuromuscular diseases: A systematic review

Pathomechanisms of Blood-Brain Barrier Disruption in ALS

Mechanical Insufflation Exsufflation and Lung Volume Recruitment in Amyotrophic Lateral Sclerosis: a Prospective Study of the Prescription Process, the Outcomes and the Experience

Contact Info

Product

Resources

About