Investigation of the role of SMN1 and SMN2 haploinsufficiency as a risk factor for Hirayama's disease: Clinical, neurophysiological and genetic characteristics in a Spanish series of 13 patients

Abstract Objective The effect of the number of copies in the SMN1 and SMN2 genes – the most extensively studied susceptibility and modifying genetic factors in adult onset motor neuron diseases – as a genetic risk factor for Hirayama's disease (HirD) has never been studied. The purpose of this...

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Veröffentlicht in:	Clinical neurology and neurosurgery 2007-12, Vol.109 (10), p.844-848
Hauptverfasser:	Gamez, Josep, Also, Eva, Alias, Laura, Corbera-Bellalta, Marc, Barceló, Maria J, Centeno, Maria, Raguer, Nuria, Gratacós, Margarita, Baiget, Montserrat, Tizzano, Eduardo F
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Atrophy Biological and medical sciences Cell Survival - genetics Cyclic AMP Response Element-Binding Protein - genetics Electromyography Female Forearm - innervation Genetic Predisposition to Disease - genetics Genetics, Population Hand - innervation Haploinsufficiency Haplotypes Hirayama's disease Humans Magnetic Resonance Imaging Male Medical sciences Monomelic amyotrophy Motor neuron disease Motor Neuron Disease - diagnosis Motor Neuron Disease - genetics Motor Neuron Disease - physiopathology Motor Neurons - physiology Muscle Weakness - diagnosis Muscle Weakness - genetics Muscle Weakness - physiopathology Muscular Atrophy, Spinal - diagnosis Muscular Atrophy, Spinal - genetics Muscular Atrophy, Spinal - physiopathology Nerve Tissue Proteins - genetics Neurologic Examination Neurology Neurosurgery OMIM 602440 Phenotype Quantitative Trait, Heritable RNA-Binding Proteins - genetics SMN Complex Proteins SMN1 SMN2 Spain Spinal Cord - pathology Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases Survival of Motor Neuron 1 Protein Survival of Motor Neuron 2 Protein Susceptibility/modifying factor Syndrome
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