Baclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth DiseaseBaclofen-Naltrexone-Sorbitol for Charcot-Marie-Tooth Disease

Combining three familiar drugs that treat other conditions may help patients with Charcot-Marie-Tooth type 1A disease (CMT1A), a new proof-of-concept study suggests. Reuters Health Information
Source: Medscape Medical News Headlines - Category: Consumer Health News Tags: Neurology & Neurosurgery News Source Type: news

Related Links:

ConclusionThe therapy of pes cavovarus has to be evaluated individually.
Source: Fuss and Sprunggelenk - Category: Podiatry Source Type: research
Publication date: Available online 31 January 2018Source: Neurochemistry InternationalAuthor(s): Bianca Flores, Cara C. Schornak, Eric DelpireAbstractThe potassium chloride cotransporter, KCC3, is an electroneutral cotransporter expressed in the peripheral and central nervous system. KCC3 is responsible for the efflux of K+ and Cl− in neurons to help maintain cell volume and intracellular chloride levels. A loss-of-function (LOF) of KCC3 causes Hereditary Motor Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) in a population of individuals in the Charlevoix/Lac-Saint-Jean region of Quebec, Canada. A...
Source: Neurochemistry International - Category: Neuroscience Source Type: research
We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry. The patient presented with a 15-year-long history of progressive limb weakness accompanied by hearing loss and dysarthria. There was abnormal differentiation and increased interpeak latencies in brainstem auditory evoked potentials. Compound muscle action potentials (CMAP) of the peripheral nerves were not elicited in distal segments, while prolonged distal latencies and decreased CMAP were present in proximal nerves. A mild enlargement of the lateral ven...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
This report aims to increase our awareness of SMALED and various other phenotypes associated with mutations in this gene.
Source: Polish Journal of Neurology and Neurosurgery - Category: Neurosurgery Source Type: research
Publication date: March 2018Source: Neurologia i Neurochirurgia Polska, Volume 52, Issue 2Author(s): Katarzyna Bienias, Joanna Ścibek, Joanna Cegielska, Jan KochanowskiAbstractSlowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and limb-girdle muscular dystrophy (LGMD), hereditary motor and sensory neuropathy (HMSN) and spinal muscular atrophy type III (SMA3). The purpose of this study is to present an evaluation of basic and complex activities of daily living in patients suffering from these diseases.The study was conducted on a group of 58 Polish patien...
Source: Polish Journal of Neurology and Neurosurgery - Category: Neurosurgery Source Type: research
Polyneuropathies are increasingly analyzed by ultrasound. Summarizing, diffuse enlargement is typical in Charcot-Marie Tooth type 1 (CMT1a), regional enlargement occurs in inflammatory neuropathies. However, a distinction of subtypes is still challenging. Therefore, this study focused on fascicle size and pattern in controls and distinct neuropathies.
Source: Clinical Neurophysiology - Category: Neuroscience Authors: Source Type: research
This report aims to increase our awareness of SMALED and various other phenotypes associated with mutations in this gene.
Source: Polish Journal of Neurology and Neurosurgery - Category: Neurosurgery Source Type: research
Publication date: March 2018Source: Neurologia i Neurochirurgia Polska, Volume 52, Issue 2Author(s): Katarzyna Bienias, Joanna Ścibek, Joanna Cegielska, Jan KochanowskiAbstractSlowly progressive neuromuscular diseases include but are not limited to: facioscapulohumeral muscular dystrophy (FSHD) and limb-girdle muscular dystrophy (LGMD), hereditary motor and sensory neuropathy (HMSN) and spinal muscular atrophy type III (SMA3). The purpose of this study is to present an evaluation of basic and complex activities of daily living in patients suffering from these diseases.The study was conducted on a group of 58 Polish patien...
Source: Polish Journal of Neurology and Neurosurgery - Category: Neurosurgery Source Type: research
Publication date: Available online 31 January 2018Source: Neurochemistry InternationalAuthor(s): Bianca Flores, Cara C. Schornak, Eric DelpireAbstractThe potassium chloride cotransporter, KCC3, is an electroneutral cotransporter expressed in the peripheral and central nervous system. KCC3 is responsible for the efflux of K+ and Cl− in neurons to help maintain cell volume and intracellular chloride levels. A loss-of-function (LOF) of KCC3 causes Hereditary Motor Sensory Neuropathy with Agenesis of the Corpus Callosum (HMSN/ACC) in a population of individuals in the Charlevoix/Lac-Saint-Jean region of Quebec, Canada. A...
Source: Neurochemistry International - Category: Neuroscience Source Type: research
We report a Chinese man with a homozygous mutation c.675C > T of NDRG1 that resulted in Q185X, representing the third known CMT4D patient of non-European ancestry. The patient presented with a 15-year-long history of progressive limb weakness accompanied by hearing loss and dysarthria. There was abnormal differentiation and increased interpeak latencies in brainstem auditory evoked potentials. Compound muscle action potentials (CMAP) of the peripheral nerves were not elicited in distal segments, while prolonged distal latencies and decreased CMAP were present in proximal nerves. A mild enlargement of the lateral ven...
Source: Journal of Clinical Neuroscience - Category: Neuroscience Source Type: research
More News: Baclofen | Brain | Charcot-Marie-Tooth Disease | Health | Neurology | Neurosurgery | Study