Neurological disorders

Definition

Neurological disorders are disorders that affect the central nervous system or the peripheral nervous systems and can impair the brain, spinal cord, peripheral nerve or neuromuscular function.

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Latest Research and Reviews

  • Protocols |

    The levels of monoamines and their cofactors in cerebrospinal fluid are strong indicators for dopamine and serotonin biosynthesis and turnover. This protocol describes a set of HPLC-based approaches for the quantitative detection of these molecules.

    • Marta Batllori
    • , Marta Molero-Luis
    • , Aida Ormazabal
    • , Mercedes Casado
    • , Cristina Sierra
    • , Angels García-Cazorla
    • , Manju Kurian
    • , Simon Pope
    • , Simon J Heales
    •  & Rafael Artuch
    Nature Protocols 12, 2359–2375
  • Research | | open

    The mTOR pathway is a key regulator of normal brain development. Here, the authors identify de novo mutations in RHEB, an mTOR activator protein, in patients with intellectual disability associated with megalencephaly and find a role for RHEB in regulating neuronal soma size and migration in vitro and in vivo.

    • M. R. F. Reijnders
    • , M. Kousi
    • , G. M. van Woerden
    • , M. Klein
    • , J. Bralten
    • , G. M. S. Mancini
    • , T. van Essen
    • , M. Proietti-Onori
    • , E. E. J. Smeets
    • , M. van Gastel
    • , A. P. A. Stegmann
    • , S. J. C. Stevens
    • , S. H. Lelieveld
    • , C. Gilissen
    • , R. Pfundt
    • , P. L. Tan
    • , T. Kleefstra
    • , B. Franke
    • , Y. Elgersma
    • , N. Katsanis
    •  & H. G. Brunner
  • Research | | open

    Sarcolipin is an inhibitor of the ATP dependent calcium pump SERCA, and is abnormally elevated in Duchenne muscular dystrophy. The authors show that reducing sarcolipin expression ameliorates skeletal muscle pathology and cardiomyopathy and extends life span in mouse models of DMD.

    • Antanina Voit
    • , Vishwendra Patel
    • , Ronald Pachon
    • , Vikas Shah
    • , Mohammad Bakhutma
    • , Erik Kohlbrenner
    • , Joseph J. McArdle
    • , Louis J. Dell’Italia
    • , Jerry R. Mendell
    • , Lai-Hua Xie
    • , Roger J. Hajjar
    • , Dongsheng Duan
    • , Diego Fraidenraich
    •  & Gopal J. Babu
  • Research | | open

    Strategies aimed at promoting muscle regeneration to treat muscular dystrophy have met with limited success. Here the authors show instead that delaying muscle regeneration, by ablation of the transcription factor Nfix, ameliorates muscular dystrophy in mice.

    • Giuliana Rossi
    • , Chiara Bonfanti
    • , Stefania Antonini
    • , Mattia Bastoni
    • , Stefania Monteverde
    • , Anna Innocenzi
    • , Marielle Saclier
    • , Valentina Taglietti
    •  & Graziella Messina
  • Research | | open

    Glioblastoma (GBM) cells are often characterized by the presence of the IDH1 R132H mutation and high expression of anti-apoptotic proteins. Here, the authors show that the inhibition of Bcl-xL is synthetically lethal in IDH1-mutated GBM models and that this effect is mediated by the oncometabolite, 2-HG, which reduces Mcl-1 protein levels.

    • Georg Karpel-Massler
    • , Chiaki Tsuge Ishida
    • , Elena Bianchetti
    • , Yiru Zhang
    • , Chang Shu
    • , Takashi Tsujiuchi
    • , Matei A. Banu
    • , Franklin Garcia
    • , Kevin A. Roth
    • , Jeffrey N. Bruce
    • , Peter Canoll
    •  & Markus D. Siegelin

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