ArticleNeurology. Genetics2026
Whole-Body Muscle MRI in Non-5q Spinal Muscular Atrophy: Patterns, Genotype Prediction, and Diagnostic Implications.
Article in Neurology. Genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Neurogenic muscular atrophy in NHP2-related dyskeratosis congenita in a family: pathological and molecular insights.Acta neuropathologica · 2026Article
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21 authors.
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Abstract
Background and Objectives: Spinal muscular atrophy (SMA) is a group of genetically heterogeneous motor neuron disorders characterized by progressive, predominantly proximal weakness. Non-5q SMA refers to forms occurring without Methods: We retrospectively analyzed multicenter data from adults presenting with chronic, progressive, motor-predominant weakness, beginning proximally in the upper or lower limbs, with exclusive or predominant motor involvement on nerve conduction studies and neurogenic changes on EMG. Whole-body MRI was qualitatively graded (Mercuri scale, 42 paired muscles) and quantitatively analyzed in the lower limbs. Results: Among 28 patients (median age 46 [26-50] years), 23 (82.1%) carried pathogenic variants in 13 genes, most commonly Discussion: Whole-body muscle MRI appears to be a valuable diagnostic tool for non-5q SMA. Gene-specific imaging signatures, particularly for
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