Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.

摘要: Importance Repeat expansion of CGG in LRP12 has been identified as the causative variation oculopharyngodistal myopathy (OPDM). However, to our knowledge, clinicopathologic features OPDM with repeat (hereafter referred OPDM_LRP12) remain unknown. Objective To identify and characterize patients OPDM_LRP12. Design, Setting, Participants This case series included 208 a clinical or diagnosis oculopharyngeal muscular dystrophy (OPDM) from January 1, 1978, December 31, 2020. Patients GCN expansions PABPN1 were excluded study. screened by primed polymerase chain reaction and/or Southern blot. Main Outcomes Measures Clinical information, muscle imaging data obtained either computed tomography magnetic resonance imaging, pathologic characteristics. Results Sixty-five Japanese (40 men [62%]; mean [SD] age at onset, 41.0 [10.1] years) 59 families identified. represents most common subtype among all Japan genetically diagnosed OPDM. The ranged 85 289 repeats. A negative correlation was observed between size onset (r2 = 0.188, P = .001). initial symptoms ptosis weakness, present 24 (37%). Limb weakness predominantly distal 53 64 (83%), but 2 (3%) had proximal weakness. Ptosis 62 (97%), dysphagia dysarthria 63 (98%). total 21 (33%) asymmetric Aspiration pneumonia seen 11 (17%), 5 (8%) required mechanical ventilation. Seven (11%) developed cardiac abnormalities, neurologic abnormalities. Asymmetric involvement detected on scans 6 27 (22%) 4 15 (27%), soleus medial head gastrocnemius being worst affected. All 42 biopsy samples showed rimmed vacuoles. Intranuclear tubulofilamentous inclusions only 1 patients. Conclusions Relevance study suggests that OPDM_LRP12 is frequent characterized especially affects muscles, vacuoles biopsy.