TY - JOUR
T1 - Spinal muscular atrophy with respiratory distress type 1
T2 - Clinical phenotypes, molecular pathogenesis and therapeutic insights
AU - Saladini, Matteo
AU - Nizzardo, Monica
AU - Govoni, Alessandra
AU - Taiana, Michela
AU - Bresolin, Nereo
AU - Comi, Giacomo P.
AU - Corti, Stefania
PY - 2020
Y1 - 2020
N2 - Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin μ-binding protein 2, leading to progressive spinal motor neuron degeneration. We review the data available in the literature about SMARD1. The vast majority of patients show an onset of typical symptoms in the first year of life. The main clinical features are distal muscular atrophy and diaphragmatic palsy, for which permanent supportive ventilation is required. No effective treatment is available yet, but novel therapeutic approaches, such as gene therapy, have shown encouraging results in preclinical settings and thus represent possible methods for treating SMARD1. Significant advancements in the understanding of both the SMARD1 clinical spectrum and its molecular mechanisms have allowed the rapid translation of preclinical therapeutic strategies to human patients to improve the poor prognosis of this devastating disease.
AB - Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin μ-binding protein 2, leading to progressive spinal motor neuron degeneration. We review the data available in the literature about SMARD1. The vast majority of patients show an onset of typical symptoms in the first year of life. The main clinical features are distal muscular atrophy and diaphragmatic palsy, for which permanent supportive ventilation is required. No effective treatment is available yet, but novel therapeutic approaches, such as gene therapy, have shown encouraging results in preclinical settings and thus represent possible methods for treating SMARD1. Significant advancements in the understanding of both the SMARD1 clinical spectrum and its molecular mechanisms have allowed the rapid translation of preclinical therapeutic strategies to human patients to improve the poor prognosis of this devastating disease.
KW - gene therapy
KW - IGHMBP2
KW - motor neuron disease
KW - Spinal muscular atrophy with respiratory distress type 1
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U2 - 10.1111/jcmm.14874
DO - 10.1111/jcmm.14874
M3 - Review article
C2 - 31802621
AN - SCOPUS:85076108378
VL - 24
SP - 1169
EP - 1178
JO - Journal of Cellular and Molecular Medicine
JF - Journal of Cellular and Molecular Medicine
SN - 1582-1838
IS - 2
ER -