학술논문
Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis.
Document Type
Academic Journal
Author
Esteller D; Neurology Department Hospital Clinic de Barcelona Universitat de Barcelona, Barcelona Spain.; Morrow J; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom.; Alonso-Pérez J; Neuromuscular Disease Unit Neurology Department Hospital Universitario Nuestra Señora de Candelaria Fundación Canaria Instituto de Investigación Sanitaria de Canarias (FIISC) Tenerife Spain.; Reyes D; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain.; Carbayo A; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain.; Bisogni G; Centro Clinico NeMO Adulti, Rome, Italy.; Cateruccia M; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Research Hospital, Rome, Italy.; Monforte M; UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Tasca G; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom.; Alangary A; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom.; Marini-Bettolo C; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom.; Sabatelli M; UOC di Neurologia, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.; Laura M; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom.; Ramdharry G; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom.; Bolaño-Díaz C; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom.; Turon-Sans J; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain.; Töpf A; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom.; Guglieri M; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom.; Rossor AM; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom.; Olive M; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain.; Bertini E; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Research Hospital, Rome, Italy.; Straub V; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom.; Reilly MM; Centre for Neuromuscular Diseases, Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and the National Hospital of Neurology and Neurosurgery, London, United Kingdom.; Rojas-García R; Neuromuscular Disorders Unit, Motor Neuron Diseases Clinic, Neurology Department Hospital de la Santa Creu i Sant Pau Universitat Autònoma de Barcelona IIB Sant Pau Barcelona Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) Barcelona Spain. Electronic address: rrojas@santpau.cat.; Díaz-Manera J; John Walton Muscular Dystrophy Research Centre Newcastle University Translational and Clinical Research Institute and Newcastle Hospitals NHS Foundation Trust Newcastle upon Tyne United Kingdom; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER) Barcelona Spain; Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Barcelona, Spain. Electronic address: jordi.diaz-manera@newcastle.ac.uk.
Source
Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE
Subject
Language
English
Abstract
Distal motor neuropathies (dHMN) are an heterogenous group of diseases characterized by progressive muscle weakness affecting predominantly the distal muscles of the lower and upper limbs. Our aim was to study the imaging features and pattern of muscle involvement in muscle magnetic resonance imaging (MRI) in dHMN patients of suspected genetic origin (dHMN). We conducted a retrospective study collecting clinical, genetic and muscle imaging data. Muscle MRI included T1-weighted and T2 weighted Short Tau Inversion Recovery images (STIR-T2w) sequences. Muscle replacement by fat was quantified using the Mercuri score. Identification of selective patterns of involvement was performed using hierarchical clustering. Eighty-four patients with diagnosis of dHMN were studied. Fat replacement was predominant in the distal lower leg muscles (82/84 cases), although also affected thigh and pelvis muscles. Asymmetric involvement was present in 29% of patients. The superficial posterior compartment of the leg, including the soleus and gastrocnemius muscles, was the most affected area (77/84). We observed a reticular pattern of fatty replacement progressing towards what is commonly known as "muscle islands" in 79.8%. Hyperintensities in STIR-T2w were observed in 78.6% patients mainly in distal leg muscles. Besides features common to all individuals, we identified and describe a pattern of muscle fat replacement characteristic of BICD2, HSPB1 and DYNC1H1 patients. We conclude that muscle MRI of patients with suspected dHMN reveals common features helpful in diagnosis process.
Competing Interests: Declaration of Competing Interest Authors have none competing interest
(Copyright © 2023. Published by Elsevier B.V.)
Competing Interests: Declaration of Competing Interest Authors have none competing interest
(Copyright © 2023. Published by Elsevier B.V.)