Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis.
Por:
Esteller D, Morrow J, Alonso-Pérez J, Reyes D, Carbayo A, Bisogni G, Cateruccia M, Monforte M, Tasca G, Alangary A, Marini-Bettolo C, Sabatelli M, Laura M, Ramdharry G, Bolaño-Díaz C, Turon-Sans J, Töpf A, Guglieri M, Rossor AM, Olive M, Bertini E, Straub V, Reilly MM, Rojas-García R, Díaz-Manera J
Publicada:
1 nov 2023
Ahead of Print:
28 ago 2023
Resumen:
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.
Filiaciones:
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
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
hybrid, All Open Access; Hybrid Gold
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