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.

doi:10.1016/j.clineuro.2007.07.019

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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.

Clinical neurology and neurosurgery - 1 Dec 2007

Gamez Josep, Also Eva, Alias Laura, Corbera-Bellalta Marc, Barceló Maria J, Centeno Maria, Raguer Nuria, Gratacós Margarita, Baiget Montserrat, Tizzano Eduardo F

Abstract excerpt

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 study was...

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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 excerpt

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