Muscle magnetic resonance imaging of a large cohort of distal hereditary motor neuropathies reveals characteristic features useful for diagnosis
Esteller Gauxax, Diana (Hospital Clínic i Provincial de Barcelona)
Morrow, Jasper (UCL Institute of Neurology (Regne Unit))
Alonso Pérez, Jorge (Instituto de Investigación Sanitaria de Canarias (FIISC))
Reyes-Leiva, David (Institut d'Investigació Biomèdica Sant Pau)
Carbayo Viejo, Álvaro (Institut d'Investigació Biomèdica Sant Pau)
Bisogni, Giulia (Centro Clinico NeMO Adulti)
Cateruccia, Michela (IRCCS Bambino Gesù Childrens' Research Hospital)
Monforte, Mauro (Fondazione Policlinico Universitario A. Gemelli IRCCS)
Tasca, Giorgio (John Walton Muscular Dystrophy Research Centre)
Alangary, Aljwhara (UCL Institute of Neurology (Regne Unit))
Marini-Bettolo, Chiara (John Walton Muscular Dystrophy Research Centre)
Sabatelli, Mario (Fondazione Policlinico Universitario A. Gemelli IRCCS)
Laura, Matilde (UCL Institute of Neurology (Regne Unit))
Ramdharry, Gita (UCL Institute of Neurology (Regne Unit))
Bolano-Diaz, C. (John Walton Muscular Dystrophy Research Centre)
Turon-Sans, Janina (Institut d'Investigació Biomèdica Sant Pau)
Töpf, Ana (John Walton Muscular Dystrophy Research Centre)
Guglieri, Michela (John Walton Muscular Dystrophy Research Centre)
Rossor, Alexander (UCL Institute of Neurology (Regne Unit))
Olivé i Plana, Montserrat (Institut d'Investigació Biomèdica Sant Pau)
Bertini, Enrico (IRCCS Bambino Gesù Childrens' Research Hospital)
Straub, Volker (John Walton Muscular Dystrophy Research Centre)
Reilly, Mary M. (UCL Institute of Neurology (Regne Unit))
Rojas-Garcia, Ricard (Centro de Investigación Biomédica en Red de Enfermedades Raras)
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau)
Universitat Autònoma de Barcelona

Data:	2023
Resum:	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.
Ajuts:	Instituto de Salud Carlos III PI19/01543
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	BICD2 ; Charcot ; Distal hereditary motor neuropathies ; Fat islands ; Muscle MRI ; Spinal muscle atrophy
Publicat a:	Neuromuscular disorders, Vol. 33 Núm. 10 (october 2023) , p. 744-753, ISSN 1873-2364

DOI: 10.1016/j.nmd.2023.08.010
PMID: 37704504

10 p, 3.2 MB

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