Cryptogenic neuropathy

BACKGROUND: Fabry disease (FD) is a multisystemic disorder with typical neurological manifestations such as stroke and small fiber neuropathy (SFN), caused by mutations of the alpha-galactosidase A (GLA) gene. We analyzed 15 patients carrying the GLA haplotype -10C>T [rs2071225], IVS2-81_-77delCAGCC [rs5903184], IVS4-16A>G [rs2071397], and IVS6-22C>T [rs2071228] for potential neurological manifestations. METHODS AND RESULTS: Patients were retrospectively analyzed for stroke, transient ischemic attack (TIA), white matter lesions (WML) and SFN with neuropathic pain...

Chronic sensory or sensorimotor polyneuropathy is a common cause for referral to neurologists. Despite extensive diagnostic testing, up to one-third of these patients remain without a known cause, and are referred to as having cryptogenic sensory peripheral neuropathy. Symptoms progress slowly. On examination, there may be additional mild toe flexion and extension weakness. Electrophysiologic testing and histology reveals axonal neuropathy. Prognosis is usually favorable, as most patients maintain independent ambulation...

Peripheral neuropathy is a common neurological disorder. There may be important differences and similarities in the diagnosis of peripheral neuropathy between North America (NA) and South America (SA). Neuromuscular databases were searched for neuropathy diagnosis at two North American sites, University of Kansas Medical Center and University of Texas Southwestern Medical Center, and one South American site, Federal Fluminense University in Brazil. All patients were included into one of the six major categories: immune-mediated, diabetic, hereditary, infectious/inflammatory, systemic/metabolic/toxic (not diabetic) and cryptogenic...

Characteristic clinical manifestations of AFD such as acroparesthesias, angiokeratoma, corneal opacity, hypo/ and anhidrosis, gastrointestinal symptoms, renal and cardiac dysfunctions can occur in male and female patients, although heterozygous females with AFD usually seem to be less severely affected. The most prominent CNS manifestations consist of cerebrovascular events such as transient ischaemic attacks (TIAs) and (recurrent) strokes. For the most part, CNS complications in AFD have been attributed to cerebral vasculopathy, including anatomical abnormalities...

OBJECTIVE: To better characterize the clinical features, electrophysiologic features, and treatment outcomes of painful legs and moving toes (PLMT) syndrome. DESIGN: Large case series. SETTING: Neurology outpatient clinic at a tertiary referral center, 1983-2011. PATIENTS: All cases of PLMT seen at our institution during an 18-year period were identified using our medical record linkage system. MAIN OUTCOME MEASURES: Key demographic, clinical, imaging, and electrophysiologic features of PLMT...

The aim of this study was to analyze whether polymorphisms for the null alleles of Glutathione S-Transferase Mu-1 (GSTM1), Glutathione S-Transferase Theta-1 (GSTT1), and a low-activity genetic variation of epoxide hydrolase exon three (EPHX*3) affect the risk of developing polyneuropathy. The enzymes of these genes are important in the metabolism of toxic compounds. Seventy-nine patients with cryptogenic polyneuropathy (equivalent to chronic idiopathic axonal neuropathy) and 398 controls were tested for the genetic polymorphism...

The primary aims of our study were to compare pregabalin and duloxetine in a neuromuscular clinic for diabetic neuropathic pain (DPN) and to study the effect of these medications in cryptogenic sensory polyneuropathy. We performed a retrospective chart review of 143 patients who were started on pregabalin or duloxetine during a 10-month period in a tertiary neuromuscular outpatient center for neuropathic pain. Duloxetine and pregabalin were started in 103 and 91 patients, respectively. Ninety-two patients tried only one of the two medications while both medications were used at different time periods in 51 patients...

PURPOSE: Data from the literature suggest that long-term therapy with various antiepileptic drugs can be responsible for the functional disturbances within the nervous system e.g. peripheral neuropathy and encephalopathy. Useful and non-invasive instruments for evaluation of even subclinical nerve conduction abnormalities in somatosensory tracts are somatosensory evoked potentials (SEPs). The aim of this study was to assess the potentially drug-induced abnormalities in the SEP parameters in epileptic children, treated chronically in monotherapy with one of the two most often used antiepileptic drugs: valproate (VPA) or carbamazepine (CBZ)...

Hydrogen sulfide (H(2)S) is responsible for many incidents of occupational toxic exposure, especially in the petroleum industry. The clinical effects of H(2)S depend on its concentration and the duration of exposure. H(2)S is immediately fatal when concentrations are over 500-1000 parts per million (ppm) but exposure to lower concentrations, such as 10-500 ppm, can cause various respiratory symptoms that range from rhinitis to acute respiratory failure. H(2)S may also affect multiple organs, causing temporary or permanent derangements in the nervous, cardiovascular, renal, hepatic, and hematological systems...

BACKGROUND: Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP. METHODS: A literature review using MEDLINE, EMBASE, Science Citation Index and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007...

The Occupational Medicine Forum is prepared by the ACOEM Occupational and Environmental Medical Practice Committee and does not necessarily represent an official ACOEM position. The Forum is intended for health professionals and is not intended to provide medical or legal advice, including illness prevention, diagnosis or treatment, or regulatory compliance. Such advice should be obtained directly from a physician and/or attorney. Inquiries and contributions to the Forum should be forwarded to Joseph J. Schwerha, MD, MPH by e-mail at schwer@pitt...

BACKGROUND: Neurologic hallmarks of Fabry disease (FD) include small fiber neuropathy as well as cerebral micro- and macroangiopathy with premature stroke. Cranial MRI shows progressive white matter lesions (WML) at an early age, increased signal intensity in the pulvinar, and tortuosity and dilatation of the larger vessels. To unravel the most promising imaging tool for the detection of CNS involvement in FD we compared the diagnostic utility of the different MR imaging findings. METHODS: Twenty-five clinically affected patients with FD (age 36...

Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP. A literature review using MEDLINE, EMBASE, Science Citation Index, and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007. Articles were classified according to a four-tiered level of evidence scheme and recommendations were based on the level of evidence...

BACKGROUND: Distal symmetric polyneuropathy (DSP) is the most common variety of neuropathy. Since the evaluation of this disorder is not standardized, the available literature was reviewed to provide evidence-based guidelines regarding the role of laboratory and genetic tests for the assessment of DSP. METHODS: A literature review using MEDLINE, EMBASE, and Current Contents was performed to identify the best evidence regarding the evaluation of polyneuropathy published between 1980 and March 2007...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

OBJECTIVE: To determine the frequency of neurologic manifestations in children with gluten sensitivity (GS) and the frequency of GS in children with neurologic disease. STUDY DESIGN: A total of 835 children with GS (based on positive titers for serum anti-gliadin antibody [AGA], anti-endomysial antibody [EMA], and anti-tissue transglutamine [tTG] antibody and a positive gut biopsy), representing the local childhood GS population in the town of Catania, Italy, were recruited, prospectively followed up, and screened for neurologic and psychiatric disturbances between 1991 and 2004...

No abstract text is available yet for this article.

BACKGROUND: Chronic polyneuropathy is a common disorder with heterogenic clinical presentation and many possible etiologies. This review presents diagnostic guidelines for physicians without specialist competence in neuromuscular disorders. MATERIAL AND METHOD: The article is based on a review of articles identified in PubMed using the search terms "peripheral neuropathy", "cause" and "investigation", relevant book chapters and own clinical experience. RESULTS AND INTERPRETATION: All patients should undergo a routine investigation for the most common causes of polyneuropathy, such as diabetes, heredity, alcohol abuse, toxic medications and agents, symptoms of Sjögren's syndrome and renal failure...

Infection of the peripheral nervous system with Borrelia burgdorferi can present as a cranial neuropathy or radiculopathy with cerebrospinal fluid (CSF) pleocytosis and intrathecal antibody production against B. burgdorferi, or as an asymmetric peripheral neuropathy with acrodermatitis chronica atrophicans (ACA) and normal CSF findings. According to North American studies, it can also present as a symmetric chronic polyneuropathy without ACA or other Lyme manifestations. Our purpose was to investigate the prevalence of B...