Mehmet Gunduz, Ozlem Unal, Birce Dilge Taskin and Zeynep Selen Karalok
Cobalamin C deficiency (CblC) is the most frequent inborn error of cobalamin (Cbl) metabolism, which has a wide clinical spectrum. Cbl C defect causes the accumulation of methylmalonic acid and homocysteine and decreased methionine synthesis. Here we presented two distinct clinical forms of patients with CblC. First patient with early onset form was presented with failure to thrive, mild hypotonia, megaloblastic anemia and leukopenia at 2.5 months old.

Daniel Terheyden-Keighley, Beate Brand-Saberi and Carsten Theiss
During the development of the peripheral nervous system, neurons rely on precise timing and extra-cellular signalling to guide their axons to exact locations. This process is most readily apparent when looking at sensory and motor neurons from in and around the spinal cord, and how they project their axons deep into the periphery. These developmental guidance systems are inactive in the adult, leaving the peripheral nervous system to rely on imprecise regeneration mechanisms to recover from injury. To study these embryonic guidance processes, in vitro guidance models of ever increasing complexity and cost have been devised.

Diana Cash, Alanna C. Easton, Michel Mesquita, John Beech, Steve Williams, et al…
Myelin-associated glycoprotein (MAG) is an inhibitor of axon growth. MAG levels increase after stroke. GSK249320 is a monoclonal antibody that neutralizes MAG-mediated inhibition and so may promote axon outgrowth and improve post-stroke outcomes. The current study tested the hypothesis that GSK249320 initiated 24 hours or 7 days after experimental stroke improves behavioural outcomes.

One pathological hallmark in ALS-linked motor neurons (MNs) is axonal accumulation of damaged mitochondria, which produce energy and buffer Ca²⁺ less efficiently, and initiate apoptotic cascades and axonal degeneration. These observations raise a fundamental question: Does impaired removal of those damaged mitochondria by the autophagy-lysosome system play a pathological role during the early asymptomatic stage of fALS-linked mice?

Valery Kazakov, Dmitry Rudenko, Alexander Pozdnyakov, Vladislav Kolynin and Tima Stuchevskaya
The aim of this study is to describe and correlate the clinical and MRI data in facio-scapulo-limb, type 2 (FSLD2) (the same as a facioscapuloperoneal or a FSHD1) family members. We studied 17 FSLD2 patients (10 men and 7 women, 17-73 years old; mean age 40 ± 3.7) from 12 families with 4q35 p13E11 EcoRI/ BlnI deletion 13-28 kb. Five patients were presymptomatic (Pr) and 12 were symptomatic.