Collapsin response mediator protein 4a (CRMP4a) is upregulated in motoneurons of mutant SOD1 mice and can trigger motoneuron axonal degeneration and cell death.

Embryonic motoneurons from mutant SOD1 (mSOD1) mouse models of amyotrophic lateral sclerosis (ALS), but not wild-type motoneurons, can be triggered to die by exposure to nitric oxide (NO), leading to activation of a motoneuron-specific signaling pathway downstream of the death receptor Fas/CD95. To identify effectors of mSOD1-dependent cell death, we performed a proteomic analysis. Treatment of cultured mSOD1 motoneurons with NO led to a 2.

DOPA-sensitive dystonia-plus syndrome.

We report on two sisters with a childhood-onset form of predominantly axial dystonia with marked diurnal fluctuations. Onset of clinical features was at approximately 6 years of age. Associated features included marked fatigue, slight facial dysmorphism, short stature, obesity, and learning disability*.

[Multiple sclerosis associated with neurofibromatosis type I].

Association between neurofibromatosis type 1 (NF-1) and multiple sclerosis (MS) has been very rarely described. We report the case of a 40-year-old woman presenting familial NF-1 who had café au lait spots and cutaneous neurofibromatosis since childhood. Five years earlier, she experienced a first episode of unilateral optic neuritis, recurrent sensory and motor disturbances, then gait ataxia and pyramidal tract dysfunction with progressive walking impairment.