Neurologia
Emerging therapies for mitochondrial disorders
Scritto da Brain - current issue   
Neurologia

Mitochondrial disorders are a diverse group of debilitating conditions resulting from nuclear and mitochondrial DNA mutations that affect multiple organs, often including the central and peripheral nervous system. Despite major advances in our un ... ...

 
De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease
Scritto da Brain - current issue   
Neurologia

We performed whole exome sequencing on a patient with Charcot–Marie–Tooth disease type 1 and identified a de novo mutation in PMP2, the gene that encodes the myelin P2 protein. This mutation (p.Ile52Thr) was passed from ... ...

 
Anti-ganglioside antibodies are removed from circulation in mice by neuronal endocytosis
Scritto da Brain - current issue   
Neurologia

See van Doorn and Jacobs (doi:10.1093/brain/aww078) for a scientific commentary on this article.  

In axonal forms of Guillain-Barré syndrome, anti-ganglioside a ... ...

 
CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids
Scritto da Brain - current issue   
Neurologia

Mutations in the colony stimulating factor 1 receptor (CSF1R) have recently been discovered as causal for hereditary diffuse leukoencephalopathy with axonal spheroids. We identified a novel, heterozygous missense mutation in CSF1R [ ... ...

 
Cortisol fluctuations relate to interictal epileptiform discharges in stress sensitive epilepsy
Scritto da Brain - current issue   
Neurologia

People with epilepsy often report seizures precipitated by stress. This is believed to be due to effects of stress hormones, such as cortisol, on neuronal excitability. Cortisol, regardless of stress, is released in hourly pulses, whose effect on ... ...

 
DJ-1 linked parkinsonism (PARK7) is associated with Lewy body pathology
Scritto da Brain - current issue   
Neurologia

Mutations in DJ-1 (encoded by PARK7) are a very rare cause of early-onset recessive Parkinson’s disease. We describe a patient with early-onset parkinsonism, starting at the age of 22, with poor response to levodopa and additional fe ... ...

 
Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis
Scritto da Brain - current issue   
Neurologia

Over 60 mutations of SCN4A encoding the NaV1.4 sodium channel of skeletal muscle have been identified in patients with myotonia, periodic paralysis, myasthenia, or congenital myopathy. Most mutations are missense with gain-of-fu ... ...

 
<< Inizio < Prec. 1 2 3 4 5 6 7 8 9 10 Succ. > Fine >>

Pag 1 di 3324