PURPOSE Familial amyloidotic polyneuropathy (FAP) is an inherited disease caused by deposition of mutant amyloid proteins in the peripheral nerves. Abnormal transthyretin (TTR) accounts for protein aggregation in the majority of FAP. Val30Met is the most common TTR gene-mutation reported in different ethnic populations. In Taiwan, Ala97Ser mutation is probably a major hot-spot of TTR mutations....

INTRODUCTION Hereditary amyloidodis is a rare disease process with a propensity to cause polyneuropathies, autonomic dysfunction, and restrictive cardiomyopathy. It is transmitted in an autosomal dominant manner, with disease onset usually in the 20s-40s. The most common hereditary amyloidogenic protein, transthyretin, is synthesized in the liver and lies on Chromosome 18. Over 80 amyloidogenic...

OBJECTIVE To study a patient with axonal polyneuropathy due to acute dimethylamine borane (DMAB) intoxication. PATIENT Confusion and drowsiness in the acute stage, followed by cognitive impairments and polyneuropathy, are reported in a chemical factory worker after acute exposure to DMAB. RESULTS Nerve conduction studies indicated axonal polyneuropathy, particularly in the motor nerves. Sur...

BACKGROUND Conventional methods in the diagnosis of carpal tunnel syndrome (CTS) in patients with polyneuropathy (PNP) are insufficient. AIMS We suggest that the comparison of the conduction of the median nerve with that of the neighboring peripheral nerves may be more beneficial in the diagnosis of entrapment neuropathy. SETTING AND DESIGN The median nerve sensory conduction in healthy vol...

The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic variability within a single family has not been reported. In a single family, the PMP22 tandem-duplication manifested as short stature, sensor...

Mutations in the valosin-containing protein (VCP) gene are known to cause various neurodegenerative disorders. Here, we report 8 Japanese patients [6 men, 2 women; median age at onset: 49.5 (range, 35–58) years] from 5 unrelated families with VCP missense mutations. Although 7 of were diagnosed either inclusion body myopathy or amyotrophic lateral sclerosis, 1 patient showed demyelinating polyn...

A polyneuropathy of varying severity has been observed in association with sepsis and critical illness in 15 patients. Since clinical evaluation is often difficult, electrophysiological studies provided definitive evidence for polyneuropathy. These revealed reductions in the amplitudes of compound muscle and sensory nerve action potentials, the most marked abnormality. Near-nerve recordings con...

The descending pain modulatory system represents one of the oldest and most fundamentally important neurophysiological mechanisms relevant to pain. Extensive work in animals and humans has shown how a functional imbalance between the facilitatory and inhibitory components is linked to exacerbation and maintenance of persistent pain states. Forward translation of these findings into clinical pop...

INTRODUCTION The sural/radial nerve amplitude ratio (SRAR) is the quotient of the sensory nerve action potential (SNAP) amplitudes (Amp) of the sural and the superficial radial nerve. It has been hypothesized that this ratio can be used for the detection of early axonal loss, because the sural SNAP amplitude will decrease first, thereby also decreasing the SRAR value. OBJECTIVES To determine ...

PURPOSE Diabetes mellitus (DM) is a chronic metabolic disorder that often leads to complications. We aimed to correlate two complications of DM, polyneuropathy and hyperactive bladder syndrome, using noninvasive measures, such as screening tests. METHODS We included 80 female and 40 male type 2 diabetic patients in this prospective study. Diabetic polyneuropathy evaluations were conducted usi...