A novel de novo nonsense mutation in ATP1A2 associated with sporadic hemiplegic migraine and epileptic seizures.

Familial hemiplegic migraine (FHM) is a severe dominant form of migraine with aura associated with transient hemiparesis. Several other neurological signs and symptoms can be associated with FHM such as cerebellar abnormalities, cerebral edema and coma after minor head trauma, epileptic seizures and mental retardation. The sporadic form of hemiplegic migraine named SHM, presents with identical clinical symptoms.

Production of monocyte chemoattractant protein-1 in amyotrophic lateral sclerosis.

The presence of activated microglia in the spinal cord of amyotrophic lateral sclerosis (ALS) patients is usually accompanied by inflammatory biochemical changes, but these are largely unexplored. Monocyte chemoattractant protein-1 (MCP-1) is critical for recruitment of inflammatory cells of monocytic lineage after inflammation or injury to the central nervous system. MCP-1 concentrations were measured by an enzyme-linked immunosorbent assay in the cerebrospinal fluid (CSF) and the serum of 27 patients with ALS and 30 patients with noninflammatory neurological diseases.

Stem cell therapy for neurodegenerative diseases: the issue of transdifferentiation.

In the past few years research on stem cells has exploded as a tool to develop potential therapies to treat incurable neurodegenerative diseases. Stem cell transplantation has been effective in several animal models, but the underlying restorative mechanisms are still unknown. Several events such as cell fusion, neurotrophic factor release, endogenous stem cell proliferation, and transdifferentiation (adult cell acquisition of new unexpected identities) may explain therapeutic success, in addition to replacement of lost cells.