title: Digital necroses and vascular thrombosis in severe spinal muscular atrophy.
abstract: Infantile spinal muscular atrophy (SMA) caused by homozygous SMN1 gene deletions/mutations is characterized by neuronal loss and axonopathy of motor neurons. We report two unrelated patients with severe SMA type I who had only one SMN2 copy and developed ulcerations and necroses of the fingers and toes. Sural nerve biopsy was normal in patient 1, whose affected skin displayed necroses and thrombotic occlusions of small vessels. Corresponding to a mouse model and other patients with similar findings, we believe that severe survival motor neuron (SMN) deficiency may present as vasculopathy.
authors.affiliation: Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Pauwelsstrasse 30, D-52074 Aachen, Germany. srudnik-schoeneborn@ukaachen.de
authors.forename: Sabine
authors.initials: S
authors.lastname: Rudnik-Schöneborn
authors.forename: Silke
authors.initials: S
authors.lastname: Vogelgesang
authors.forename: Sven
authors.initials: S
authors.lastname: Armbrust
authors.forename: Luitgard
authors.initials: L
authors.lastname: Graul-Neumann
authors.forename: Christoph
authors.initials: C
authors.lastname: Fusch
authors.forename: Klaus
authors.initials: K
authors.lastname: Zerres
mesh_terms: D017809:Fatal Outcome; D005260:Female; D005385:Fingers / Q000473:pathology*; D018628:Gene Dosage; D006343:Heart Septal Defects / Q000209:etiology / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009336:Necrosis; D012883:Skin Ulcer / Q000209:etiology* / Q000473:pathology*; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications* / Q000235:genetics / Q000473:pathology*; D055540:Survival of Motor Neuron 2 Protein / Q000235:genetics; D020246:Venous Thrombosis / Q000209:etiology*
chemical_list: C526477:SMN2 protein, human; D055540:Survival of Motor Neuron 2 Protein