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Batten disease is a severe autosomal recessive neurodegenerative disease which results from mutations in CLN3 . Although the gene was cloned in 1995, the tissue distribution and subcellular localization of the CLN3 protein (CLN3P) remains inconclusive. We have demonstrated the presence of a novel...
The finding that patients with amnesia retain the ability to learn certain procedural skills has provided compelling evidence of multiple memory systems in the human brain, but the scope, defining features and ecological significance of the preserved mnemonic abilities have not yet been explored....
In order to identify the cortical areas involved in the reading process and to spare them during surgery, we systematically studied cortical areas by direct cortical stimulation in patients operated on for brain tumours. Seventy-six cortical stimulation mapping studies for language were performed...
Magnetic resonance (MR) techniques enable in vivo measurement of the atrophy of the brainstem and cerebellum in spinocerebellar ataxia type 1 (SCA1) and 2 (SCA2) patients, which is accompanied by a decrease in the concentration of N -acetyl aspartate (NAA) or of the NAA/creatine ratio in the pons...