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Digital necroses and vascular thrombosis in severe spinal muscular atrophy
Author(s) -
RudnikSchöneborn Sabine,
Vogelgesang Silke,
Armbrust Sven,
GraulNeumann Luitgard,
Fusch Christoph,
Zerres Klaus
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21654
Subject(s) - smn1 , sma* , spinal muscular atrophy , medicine , motor neuron , pathology , sural nerve , atrophy , thrombosis , anatomy , disease , mathematics , combinatorics
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. Muscle Nerve 42: 144–147, 2010