Inherited neuropathies, collectively known as Charcot-Marie-Tooth disease (CMT), are a group of genetically and phenotypically heterogeneous peripheral neuropathies associated with mutations or copy number variations in over 80 distinct genes. 1 Named after the three neurologists who first described the condition in 1886, CMT is the most common inherited neuromuscular disease. 2 CMT is a motor ...

Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for autosomal dominant (SPTLC1 and RAB7) and five genes for autosomal recessive f...

Noise can enhance the detection and transmission of weak signals in certain nonlinear systems, via a mechanism known as stochastic resonance. Here we show that input noise can be used to improve motor control in humans. Specifically, we show that the postural sway of both young and elderly individuals during quiet standing can be significantly reduced by applying subsensory mechanical noise to ...

Diabetic neuropathy affects peripheral nerves (sensory, motor, autonomic) so all organ systems can be affected. In childhood, subclinical forms are typical when no clinical symptoms are evident, however sensitive diagnostic methods can detect them. Later, autonomic and sensory-motor neuropathy is very common (see the classification in table 1). Some forms of diabetic neuropathy are presented in...

The aim in this review article is to document research findings that have shown paradoxical effects of nervous system changes, whereby direct or indirect neural damage may result in facilitation of behavioural functions. Such findings have often been ignored or undervalued in the brain-behaviour research literature. A further aim is to consider possible mechanisms and theoretical insights relat...

external aldimine form of serine palmitoyltransferase: structural, kinetic, and spectroscopic analysis of the wild-type enzyme and HSAN1 mutant mimics' General rights Copyright for the publications made accessible via the Edinburgh Research Explorer is retained by the author(s) and / or other copyright owners and it is a condition of accessing these publications that users recognise and abide b...

OBJECTIVE To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this mutation. METHODS We screened 107 patients with HSAN who were negative for other genetic causes for mutations in SPTLC2. The biochemical properties of a new mutatio...

ably affects development, as well as maintenance of neurons, because there is neuropathological and clinical progression. Inherited autonomic neuropathies are a rare group of disorders associated with sensory dysfunction. As a group they are termed the "hereditary sensory and autonomic neuropathies" (HSAN). Classification of the various autonomic and sensory disorders is ongoing. Phenotypic exp...

INTRODUCTION Changes in human behaviour and lifestyle over the last century have resulted in a dramatic increase in the incidence of diabetes worldwide. Neuropathy is a common and costly complication of both type 1 and type 2 diabetes. The prevalence of neuropathy is estimated to be about 8% in newly diagnosed patients and greater than 50% in patients with long-standing disease. There are two m...