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Neurogenetics (2013) 14:255256 DOI 10.1007/s10048-013-0369-6
LETTER TO THE EDITOR
Brachial amyotrophic diplegia associated with the a140a superoxide dismutase 1 mutation
L. Di Vito & D. de Biase & A. Pession & M. Visani &
R. Liguori & S. Zambito Marsala & V. Leta & P. De Carolis &
V. Donadio
Received: 26 June 2013 /Accepted: 31 July 2013 /Published online: 16 August 2013 # Springer-Verlag Berlin Heidelberg 2013
Brachial amyotrophic diplegia (BAD) is a sporadic adult-onset lower motor neuron disease restricted to the proximal arm and shoulder girdle muscles [1]. BAD has been associated with several acquired disorders such as cerebral, brain stem, cervical spinal cord or bilateral brachial plexus insult. However, a correlation with a novel copper/zinc superoxide dismutase (SOD1) gene mutation has recently been reported [1, 2], pointing to a possible genetic predisposition at least in some cases. We report on a novel association of BAD syndrome with the A140A SOD1 mutation in two Italian siblings.
Our 72-year-old man proband presented a 5-year history of upper arm weakness and wasting starting in the proximal right arm and slowly progressing to the proximal controlateral arm without a further progression to the lower limb or sensory symptoms. His 78-year-old brother complained of progressive upper arms weakness in recent years. He presented a long
history of diabetes mellitus and a severe chronic form of rheumatoid arthritis. The patients have no other brothers and their sons (aged 3048 years) are in good health. No clinical or genetic information was available on the proband's parents. Full clinical and neurophysiological examinations in...