Broadening the imaging phenotype of dysferlinopathy at different disease stages

Muscle & Nerve
Jorge DíazJorge A Bevilacqua

Abstract

MRI characterization of dysferlinopathy has been mostly limited to the lower limbs. We aimed to broaden the MRI description of dysferlinopathy and to correlate it with objective measures of motor dysfunction. Sequential whole-body axial MRI was performed in 27 patients with genetically confirmed dysferlinopathy classified according to disease duration. Spearman correlations of fatty infiltration scores versus Motor Function Measure (MFM) were calculated. Significant fatty infiltration was symmetrically present in early stages mainly in the posterior compartments of legs and thighs, thigh adductors, pelvic girdle, and some paravertebral muscles and the subscapularis. Later, fatty infiltration involved leg and thigh anterior compartments, arms and forearms, paravertebral, and trunk muscles. MRI infiltration score correlated positively with disease duration and negatively with MFM scale. We expand MRI characterization of dysferlinopathy and provide evidence for use of MRI scoring combined with motor functional scales to assess the natural course of disease. Muscle Nerve, 2016 Muscle Nerve 54: 203-210, 2016.

References

Nov 1, 1988·Stroke; a Journal of Cerebral Circulation·R F Bloch
May 1, 1988·Stroke; a Journal of Cerebral Circulation·J C van SwietenJ van Gijn
Dec 16, 1997·Brain : a Journal of Neurology·W H LinssenM De Visser
Oct 29, 2002·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Eugenio MercuriGraeme Bydder
Sep 25, 2003·Muscle & Nerve·Jonathan S KatzAnthony A Amato
Oct 13, 2004·Archives of Neurology·Long-Sun RoSien-Tsong Chen
Feb 24, 2005·Journal of Neurology·Dirk FischerRolf Schröder
Aug 18, 2005·Neuromuscular Disorders : NMD·Carole BérardUNKNOWN MFM Collaborative Study Group
Mar 3, 2006·Journal of Neurology·Cornelia KornblumMike Peter Wattjes
Mar 25, 2009·Genetic Testing and Molecular Biomarkers·Jorge A BevilacquaNicolas Lévy
Apr 3, 2012·Journal of Korean Medical Science·Hyung Jun ParkYoung-Chul Choi
Sep 26, 2012·Neuromuscular Disorders : NMD·Anna SarkozyVolker Straub
Jun 17, 2014·PloS One·Giorgio TascaEnzo Ricci
Apr 23, 2015·Muscle & Nerve·Lisanne WoudtJorge A Bevilacqua

❮ Previous
Next ❯

Citations

Jan 24, 2017·Neuropathology and Applied Neurobiology·H Jungbluth
Dec 12, 2019·Neurology·Rasha El SherifIchizo Nishino
May 8, 2018·Journal of Neurology, Neurosurgery, and Psychiatry·Jordi Diaz-ManeraUNKNOWN Jain COS Consortium
Jun 2, 2020·Muscle & Nerve·Stefan NicolauMargherita Milone
Aug 17, 2020·Current Opinion in Neurology·Claudia Nuñez-PeraltaJordi Díaz-Manera
Jun 21, 2020·International Journal of Molecular Sciences·Paz García-CamposAna M Cárdenas
Nov 7, 2020·Muscle & Nerve·Jordi Díaz-ManeraVolker Straub
Nov 16, 2019·Neuromuscular Disorders : NMD·Jodi Warman ChardonUNKNOWN MYO-MRI Working Group
Dec 21, 2021·Journal of Cachexia, Sarcopenia and Muscle·Zoe WhitePascal Bernatchez

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.