Genetic and phenotypic variability of optic neuropathies.

Genetic and phenotypic variability of optic neuropathies. Neuhann T, Rautenstrauss B.; Expert Rev Neurother. 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19.

Keywords: Hereditary optic neuropathies, heterogeneous disorders, autosomal dominant, autosomal recessive, X-linked recessive, Leber's hereditary optic neuropathy, Kjer's disease, mtDNA mutations, inherited peripheral neuropathies, Charcot-Marie-Tooth disorders (CMT2A2, CMTX5), hereditary sensory neuropathy type 3 (HSAN3), Friedreich's ataxia, leukodystrophies, sphingolipidoses, ceroid-lipofuscinoses, brain iron accumulation.

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies

Cis-silencing of PIP5K1B evidenced in Friedreich's ataxia patient cells results in cytoskeleton anomalies . Aurélien Bayot, Sacha Reichman, Sophie Lebon, Zsolt Csaba, Laetitia Aubry, Ghislaine Sterkers, Isabelle Husson, Malgorzata Rak, Pierre Rustin; Hum. Mol. Genet. (2013) doi: 10.1093/hmg/ddt144 First published online: April 2, 2013.

KEYWORDS: Friedreich's ataxia (FRDA), intronic expansion of GAA triplet repeats, FXN locus, mitochondrial frataxin, profound cytoskeleton anomalies, PIP5K1B gene, phosphatidylinositol 4-phosphate 5-kinase β type I (pip5k1β), phosphatidylinositol 4-phosphate (PI(4)P), phosphatidylinositol-4,5-bisphosphate (PI(4,5)P2), actin network.

The role of palliative care in patients with neurological diseases

The role of palliative care in patients with neurological diseases. Gian Domenico Borasio; Nature Reviews Neurology ,doi:10.1038/nrneurol.2013.49

Keywords:Palliative care, quality of life, life-threatening illness, neurological disorders, daily clinical practice.