4-48-08 Familial amyloid neuropathy (FAP-type I) in Portugal and Sweden: A more variable disease than the one first described (original) (raw)
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North America and South America (NA-SA) neuropathy project
The International journal of neuroscience, 2013
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. A comparison of the number of patients in each category was made between North America and South America databases. Total number of cases in North America was 1090 and in South America was 1034 [immune-mediated: NA 215 (19.7%), SA 191 (18%); diabetic: NA 148 (13.5%), SA 236 (23%); hereditary: NA 292 (26.7%), SA 103 (10%); infectious/inflammatory: NA 53 (4....
American Journal of Medical Genetics, 1995
Familial amyloidotic polyneuropathy (FAP-type I) was first described in Portugal by Andrade in 1952, a time when 54 among 64 patients (belonging to 25 families) originated from Póvoa do Varzim or its surrounding districts. Since then, a total of 1,233 patients, belonging to 489 pedigrees (so far unrelated), have been diagnosed at Centro de Estudos de Paramiloidose, Porto, Portugal. Although age-of-onset showed a wide range (17 to 78 years), 87% of these 1,233 patients developed symptoms before 40 years of age (mean 33.5, SD 9.4 years).Among all patients, 432 belong to 140 families originating from the area of Póvoa do Varzim/Vila do Conde, 330 of whom lived in that area at the time of diagnosis; age-of-onset was, on average, lower than in the overall group of patients (mean 31.1, SD 6.7 years), and no patient had onset after 57 years (versus 3.3% in the global sample). As in previous studies, women were found to have a later onset (33.7) than men (29.0) years. In 1991, the crude prevalence rate was 90.3 × 10−5 (one in every 1,108 inhabitants), and the frequency of gene carriers was estimated to be 186 × 10−5 (one in every 538); about 48.4% of these carriers had manifested symptoms by 1991.Female patients had a significantly higher number of children (mean 3.7, SD 2.6) than male patients (mean 2.7, SD 2.1) and the length of their reproductive period (mean 8.4, SD 5.8 yr) was also greater than for men (mean 5.6, SD 4.4 yr). Altogether, the 122 patients who ever reproduced contributed 457 children to the next generation, a mean fertility of 3.7. Further studies using a control groups may answer the question of whether this is the result of a specific high fertility of these patients or just their belonging to a population in natural expansion. © 1995 Wiley-Liss, Inc.
Arquivos de Neuro-Psiquiatria, 1975
The authors present a review of 21 cases with the diagnosis of type I amyloid neuropathy based on epidemiological data, clinical evolution and histopathological findings. They call attention to the possibility of cranial nerves involvement (hyposmia, diplopia, masseterian hypotrophy, peripheral facial paralysis, hypoacusis, dysphonia, laryngeal paralysis, dysphagia, and trapezium muscle hypotrophy), to the severeness of the digestive symptoms, to the precocity of the autonomic disorders, and to the rather high incidence (6 cases) of heart involvement. The electromyography showed anterior horn involvement in 3 cases. The electrocardiography showed repolarization disorders in 11 cases, left ventricular overload in 6 cases and atrioventricular block in 5 cases. The serum proteins electrophoresis showed frequent abnormalities, but no typical curve could be obtained. The barium-contrasted X-rays of the gastrointestinal tract showed no anatomical lesions, but functional abnormalities (hyp...
Children
Disorders of the peripheral nerves can be caused by a broad spectrum of acquired or hereditary aetiologies. The objective of these practice guidelines is to provide the reader with information about the differential diagnostic workup for a target-oriented diagnosis. Following an initiative of the German-speaking Society of Neuropaediatrics, delegates from 10 German societies dedicated to neuroscience worked in close co-operation to write this guideline. Applying the Delphi methodology, the authors carried out a formal consensus process to develop practice recommendations. These covered the important diagnostic steps both for acquired neuropathies (traumatic, infectious, inflammatory) and the spectrum of hereditary Charcot–Marie–Tooth (CMT) diseases. Some of our most important recommendations are that: (i) The indication for further diagnostics must be based on the patient’s history and clinical findings; (ii) Potential toxic neuropathy also has to be considered; (iii) For focal and ...
A clinical and pathological study of motor neurone disease on Guam
Brain, 2001
Despite over 40 years of intensive study, the cause of the high incidence of motor neurone disease (MND) on Guam, and the relationship between this disease and MND seen in the rest of the world are still uncertain. We present a series of 45 cases of Guamanian MND, which reaffirm the clinical similarity between this disease and MND seen in other countries. However, the occurrence of MND among the indigenous Chamorros of Guam is distinguished by four factors: (i) high prevalence; (ii) frequent familial occurrence; (iii) co-occurrence with the parkinsonism-dementia complex (PDC); and (iv) association with an unusual and distinctive linear retinopathy termed Guam retinal pigment epitheliopathy (GRPE). These distinguishing factors were not present in four non-Abbreviations: ALS ϭ amyotrophic lateral sclerosis; GRPE ϭ Guam retinal pigment epitheliopathy; MND ϭ motor neurone disease; PDC ϭ parkinsonism-dementia complex
Epidemiology of distal symmetrical neuropathies in the Italian elderly
Neurology, 2007
Objectives: To estimate prevalence and incidence of distal symmetric neuropathies (DSN) in the Italian elderly, and to evaluate the accuracy of our procedure to screen for DSN. Methods: In eight Italian municipalities, a population-based sample was directly evaluated both at baseline (1992) and after a 3-year follow-up. Cohort members who had died were studied. DSN diagnosis and subtyping were made according to specified diagnostic criteria. Results: Our screening procedure proved accurate (sensitivity 94.7%, specificity 70%, positive predictive value 18.9%), and provided an adjusted prevalence of 7.0 (95% CI, 6.9 to 7.0). Women outnumber men both in the oldest age groups and as a whole. Rates increase with increasing age in both genders. Among the 2,845 individuals re-screened at the follow-up and the 221 deceased subjects with reliable information, we identified 100 incident cases of DSN. Adjusted annual incidence rate (per 1,000 person-years) in the population 65 to 84 years of age is 7.9 (95% CI, 6.3 to 9.5), and for the nondiabetic DSN is 5.76 (95% CI, 4.3 to 7.3). Age significantly predicted the onset of DSN both in diabetic individuals (for every increasing year of age RR ϭ 1.07; 95% CI, 1.01 to 1.14) and in the entire study population (RR ϭ 1.05; 95% CI, 1.02 to 1.09). Conclusions: We provide the first population-based distal symmetric neuropathies incidence data, as well as prevalence rates from an unselected sample of Italian elderly. Distal symmetric neuropathies are an age-associated condition, but the frequency of diabetic distal symmetric neuropathies declines with age, coincident with an increase in nondiabetic cases.
arquivos de neuro-psiquiatria, 2023
Background Neurological conditions can cause secondary orthopedic disorders and can result from orthopedic surgical procedures. In addition, misdiagnosis and overtreatment involve both specialties. Epidemiological studies of neurological patients in tertiary units are often performed in emergency departments of general hospitals or rehabilitation centers. Objective Describe the clinical and epidemiologic profile of neurological disorders in a Brazilian federal tertiary center and education hospital in orthopedics in Rio de Janeiro. Methods We performed a retrospective study of the medical records of patients attended by neurology specialists of the internal medicine's department of the National Institute of Traumatology and Orthopedics from February 2014 to March 2020. Results We reviewed neurological referrals in the medical records of 1,349 patients in the period. The mean age of patients was 49.67 years (standard deviation [SD] AE 18.99). There was a predominance of females, corresponding to 751 (55.7%) patients. Regarding ethnicity, 684 (50.7%) participants were white, 550 (40.8%) non-white, and 115 (8.5%) non-classified. Peripheral neuropathies (34.1%), osteoarticular diseases (10%), epilepsy (8.3%), developmental disorders (7.9%), and neuromuscular diseases (7.3%) were the 5 groups with the largest numbers of cases. Conclusion The sample consisted mostly of females and white individuals, and approximately one third of the cases were of peripheral neuropathies. Epidemiological
Brain, 2000
Over an 18-month period, all incident cases of neurological compressive neuropathies, 49 (CI: 39, 61); epilepsy, 46 (CI: 36, 60); Parkinson's disease, 19 (CI: 12, 27); peripheral disorders were ascertained prospectively in an unselected neuropathies, 15 (CI: 9, 23); CNS infections, 12 (CI: 5, urban population based in 13 general practices in the 13); post-herpetic neuralgia, 11 (CI: 6, 17); and major London area by a General Practice Linkage Scheme with neurological injuries, 10 (CI: 4, 11). Lifetime prevalence the National Hospital for Neurology and Neurosurgery.