Case of Young-Onset Sporadic Amyotrophic Lateral Sclerosis.

Amyotrophic lateral sclerosis (ALS) constitutes the main type of motor neuron disease. Familial ALS is characterized by the presence of positive family history and accounts for 10% of ALS cases. Although familial ALS is the main culprit for early-onset disease, there are rare cases of early- or young-onset ALS with negative family history or sporadic ALS. We describe a 23-year-old man with clinical and electrophysiological evidence of probable sporadic ALS according to the revised EI Escorial criteria. Interestingly, brain neuroimaging revealed bilaterally increased T2 signals across corona radiata, posterior limb of the internal capsule, and descending motor tracts in the brainstem and hypointensity rim of the motor cortex on T2-weighted images. Young-onset sporadic ALS may be a distinct nosological entity. The topic is shortly discussed in the light of its genetic and clinical characteristics.

[1]  M. Filippi,et al.  Neuroimaging in amyotrophic lateral sclerosis: insights into structural and functional changes , 2014, The Lancet Neurology.

[2]  A. Chiò,et al.  State of play in amyotrophic lateral sclerosis genetics , 2013, Nature Neuroscience.

[3]  A. Ignjatović,et al.  Brain iron MRI: A biomarker for amyotrophic lateral sclerosis , 2013, Journal of magnetic resonance imaging : JMRI.

[4]  A. Al-Chalabi,et al.  Young-onset amyotrophic lateral sclerosis: historical and other observations. , 2012, Brain : a journal of neurology.

[5]  M. de Carvalho,et al.  Young‐onset sporadic amyotrophic lateral sclerosis: A distinct nosological entity? , 2007, Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases.

[6]  M. Swash,et al.  El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis , 2000, Amyotrophic lateral sclerosis and other motor neuron disorders : official publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases.

[7]  M. de Carvalho Natural history of young-adult amyotrophic lateral sclerosis. , 2009, Neurology.

[8]  P. Andersen,et al.  [Familial amyotrophic lateral sclerosis]. , 1996, Duodecim; laaketieteellinen aikakauskirja.