The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

TAR DNA binding protein of 43 kDa (TDP-43)-positive inclusions in neurons are a hallmark of several neurodegenerative diseases including familial amyotrophic lateral sclerosis (fALS) caused by pathogenic TARDBP variants as well as more common non-Mendelian sporadic ALS (sALS). Here we report a G376V-TDP-43 missense variant in the C-terminal prion-like domain of the protein in two French families affected by an autosomal dominant myopathy but not fulfilling diagnostic criteria for ALS. Patients from both families presented with progressive weakness and atrophy of distal muscles, starting in their fifth to seventh decade.

Formation of the methyl cation by photochemistry in a protoplanetary disk.

Forty years ago, it was proposed that gas-phase organic chemistry in the interstellar medium can be initiated by the methyl cation CH (refs. ), but so far it has not been observed outside the Solar System. Alternative routes involving processes on grain surfaces have been invoked.

Microwave spectra of dinitrotoluene isomers: a new step towards the detection of explosive vapors.

The spectroscopic characterization of explosive taggants used for TNT detection is a research topic of growing interest. We present a gas-phase rotational spectroscopic study of weakly volatile dinitrotoluene (DNT) isomers. The pure rotational spectra of 2,4-DNT and 2,6-DNT were recorded in the microwave range (2-20 GHz) using a Fabry-Perot Fourier-transform microwave (FP-FTMW) spectrometer coupled to a pulsed supersonic jet.

Novel Intronic Mutation in Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report.

X-linked Myopathy with Excessive Autophagy (XMEA) is a rare autophagic vacuolar myopathy caused by mutations in the Vacuolar ATPase assembly factor gene; onset usually occurs during childhood and rarely occurs during adulthood. We described a 22-year-old patient with XMEA, whose onset was declared at 11 through gait disorder. He had severe four-limb proximal weakness and amyotrophy, and his proximal muscle MRC score was between 2 and 3/5 in four limbs; creatine kinase levels were elevated (1385 IU/L), and electroneuromyography and muscle MRI were suggestive of myopathy.

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy.

Distal hereditary motor neuropathy represents a group of motor inherited neuropathies leading to distal weakness. We report a family of two brothers and a sister affected by distal hereditary motor neuropathy in whom a homozygous variant c.3G>T (p.

Quasi-symmetry effects in the threshold photoelectron spectrum of methyl isocyanate.

The vacuum-ultraviolet threshold photoelectron spectrum of methyl isocyanate CHNCO has been recorded from 10.4 eV to 12 eV using synchrotron radiation and a coincidence technique allowing for a mass-discrimination of the photoelectron signal. A significant improvement is achieved over previous investigations as this experimental setup leads to a much more resolved spectrum.

Phosphorylated and aggregated TDP-43 with seeding properties are induced upon mutant Huntingtin (mHtt) polyglutamine expression in human cellular models.

The Tar DNA-Binding Protein 43 (TDP-43) and its phosphorylated isoform (pTDP-43) are the major components associated with ubiquitin positive/Tau-negative inclusions found in neurons and glial cells of patients suffering of amyotrophic lateral sclerosis (ALS) or frontotemporal lobar degeneration-TDP-43 (FTLD-TDP). Many studies have revealed that TDP-43 is also in the protein inclusions associated with neurodegenerative conditions other than ALS and FTLD-TDP, thus suggesting that this protein may be involved in the pathogenesis of a variety of neurological disorders. In brains of Huntington-affected patients, pTDP-43 aggregates were shown to co-localize with mutant Huntingtin (mHtt) inclusions.

Correction to: Cellular mechanisms responsible for cell-to-cell spreading of prions.

In the original publication, part of acknowledgement text was missing. The complete acknowledgement section should read as follows.

Cellular mechanisms responsible for cell-to-cell spreading of prions.

Prions are infectious agents that cause fatal neurodegenerative diseases. Current evidence indicates that they are essentially composed of an abnormally folded protein (PrP). These abnormal aggregated PrP species multiply in infected cells by recruiting and converting the host PrP protein into new PrP.

Valence shell threshold photoelectron spectroscopy of the CHCN (x = 0-2) and CNC radicals.

We present the photoelectron spectroscopy of four radical species, CHCN (x = 0-2) and CNC, formed in a microwave discharge flow-tube reactor by consecutive H abstractions from CHCN (CHCN + F → CHCN + HF (x = 1-3)). The spectra were obtained combining tunable vacuum ultraviolet synchrotron radiation with double imaging electron/ion coincidence techniques, which yielded mass-selected threshold photoelectron spectra. The results obtained for HCCN complement existing ones while for the other radicals the data represent the first observation of their (single-photon) ionizing transitions.

Experimental and theoretical investigations of HO-Ar.

We have used continuous-wave cavity ring-down spectroscopy to record the spectrum of HO-Ar in the 2OH excitation range of HO. 24 sub-bands have been observed. Their rotational structure (T = 12 K) is analyzed and the lines are fitted separately for ortho and para species together with microwave and far infrared data from the literature, with a unitless standard deviation σ=0.

Ab initio and experimental studies of the large-amplitude motion in BF2OH.

The ground state rotational spectrum of BF2OH was measured under high resolution by microwave Fourier transform spectroscopy (FTMW), and the small torsional splitting could be resolved for several lines. This splitting was analyzed using a phenomenological model previously developed for HNO3 [Coudert and Perrin, J. Mol.