Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0152025 (polyneuropathy)
 7,862 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Familial amyloidotic polyneuropathy type IV, one of the hereditary systemic amyloidoses with an autosomal dominant trait, is clinically characterized by cranial neuropathy and corneal lattice dystrophy. Recent biochemical studies have indicated that the amyloid fibril protein in FAP IV is related to gelsolin, an actin-modulating protein. Cases were clustered in the Finnish population and only a few cases have been reported from other populations. Here we described a large kindred with FAP IV as the first report in Japan. This family comprises 42 members in three generations with 14 affected individuals. We examined 7 patients at the age ranging from 43 to 80 years. All cases have corneal lattice dystrophy type II. The disease begins with slowly progressive facial weakness in the fifth or sixth decade of life and consequently the V, XII, IX and X cranial nerves become involved. Peripheral neuropathy of the extremities remained mild until late of life. Microscopy of skin biopsy samples showed deposits of amyloid around the eccrine glands, sebaceous glands, epidermal-dermal junction and blood vessel walls. Immunohistochemistry of the skin revealed the immunopositive material against a monoclonal antibody to gelsolin in the amyloid deposits. Molecular analysis of the gelsolin gene is now in progress.
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PMID:[Familial amyloidotic polyneuropathy type IV (Finnish type)--the first description of a large kindred in Japan]. 133 23

Familial amyloidotic polyneuropathy type IV (FAP IV) is clinically characterized by slowly progressive cranial neuropathy and corneal lattice dystrophy. More than 300 cases were clustered in the Finnish population. Recent biochemical studies have demonstrated that the amyloid fibril protein in FAP IV is related to Asn-187 variant gelsolin, and the corresponding missense mutation, a G to A substitution at nucleotide 654 of plasma gelsolin cDNA, cosegregates with the disease phenotype in Finnish families. Here we analyzed the gelsolin gene of the Japanese family with FAP IV which we described as the first Japanese case. Direct sequence analysis of PCR-amplified DNA fragments spanning the codon 187 of plasma gelsolin cDNA from the 2 affected family members demonstrated a single base substitution, G to A at nucleotide 654, which is identical to the mutation of Finnish FAP IV. Restriction analysis using a modified PCR revealed that three unaffected family members and three unrelated healthy controls were homozygous for the normal allele, whereas the seven affected family members were heterozygous for the normal and the mutated alleles. This indicates the cosegregation of the mutation with the disease phenotype in this Japanese family, suggesting that the mutation causes the FAP IV phenotype regardless of ethnic background.
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PMID:[Gene analysis of Japanese patients with familial amyloidotic polyneuropathy type IV]. 133 24

The Portuguese type of familial amyloid polyneuropathy (FAP type I) is a disabling autosomic dominant disorder, which is caused by a point mutation in the transthyretin (TTR) gene. Other TTR gene mutations have been reported recently in other FAP. In the absence of monoclonal gammopathy, sporadic amyloid neuropathies raise a problem for their pathogenicity. In this study, we have looked for TTR gene mutations in apparently sporadic cases of amyloid polyneuropathy by Southern's technique. All the patients were of french origin. None had monoclonal gammopathy. The mean age at onset was 64 (50 to 79 years). Most of the patients (9/1) were male. Five patients were found to carry FAP type 1 mutation, and 2 the tyr 77 (German) mutation. This study suggests that investigations in amyloid polyneuropathy with no overt family history should include systematic DNA analysis.
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PMID:[Demonstration of genetic mutation in most of the amyloid neuropathies with sporadic occurrence]. 133 34

The N-terminus of a mutant form of apolipoprotein AI [apoAI] has previously been shown to be the subunit protein of amyloid fibrils in a human kindred with a form of familial amyloid polyneuropathy (FAP, type III) and in a recently reported kindred with a form of non-neuropathic hereditary amyloidosis. In this study, we demonstrate by amino-acid sequence analysis, that a form of vascular amyloidosis occurring in the lungs of aged dogs is derived from a N-terminal fragment of apoAI and that no amino acid substitution is present in this confirmed sequence. This represents the first documentation of apoAI as a precursor for a form of amyloidosis in animals, and provides the first documentation of apoAI as a precursor for amyloid fibrils in a form of age-associated ("senile") amyloidosis. Secondary structure prediction analysis of the N-terminal regions of normal human and dog apoAI indicated a propensity for beta-pleated sheet conformation, and thus amyloidogenesis, in 40 and 45% of the respective sequences. These results suggest that apoAI (like transthyretin) may serve as an amyloid precursor protein for both familial and senile forms of amyloidosis. ApoAI should, therefore, be considered as a potential amyloid precursor when forms of human senile amyloidosis of unknown origin are evaluated.
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PMID:Pulmonary vascular amyloidosis in aged dogs. A new form of spontaneously occurring amyloidosis derived from apolipoprotein AI. 144 41

Brothers (case 1 and case 2) had familial amyloidotic polyneuropathy type 1 (FAP type 1) confirmed with sural nerve biopsy and DNA analysis. Both patients were unique in that their ages at onset were 56 and 52, and that their only manifestation was sensori-motor polyneuropathy, without clinically apparent autonomic involvements such as orthostatic hypotension, sweat dysfunction and sphincter dysfunction, or severe organ involvement such as gastrointestinal features and myocardial involvement after the onset. They are also unique in that their parents were healthy. The initial manifestation was sensori-motor polyneuropathy starting in the lower extremities. These atypical manifestations made the diagnosis of FAP type 1 difficult in the present cases. Based on reports in the literature and the present cases, there might be a tendency that in patients with late-onset FAP type 1 the clinical manifestations are generally mild and autonomic involvement and organ disturbance are absent or mild. In the etiological diagnosis of polyneuropathy, FAP type 1 should be considered especially in steadily progressive patients.
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PMID:[Two sibling patients with late-onset familial amyloidotic polyneuropathy and atypical clinical manifestations]. 145 34

Finnish hereditary amyloidosis-Meretoja (FAP type 4) is the predominating type of hereditary amyloidosis in the Finnish population, found in more than 200 individuals. We present a Finnish family with familial amyloidotic polyneuropathy (FAP Met30), a type of amyloidosis hitherto not described in the Finnish population. Genealogical tracing back to the 18th century revealed no connections with Swedish FAP families, but introduction from Sweden is the most probable origin of the FAP Met30 gene.
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PMID:The first case of familial amyloidotic polyneuropathy (FAP Met30) in the Finnish population. 151 98

Although familial amyloid polyneuropathy of the Portuguese type (FAP-PT) was first described in 1952, there is little in the medical literature detailing the anaesthetic management of such patients. FAP-PT is a disease with multiple clinical manifestations which include disturbances of sensibility, progressive paresis starting in the lower extremities, autonomic dysfunction, cardiac conduction disturbances, gastro-intestinal disorders, nephrotic syndrome, sexual and sphincter disorders, extreme emotionalism and apprehension. Several intermingling problems have to be considered in the anaesthetic management of each individual case. In our patient a sinus dysrhythmia resolved after isoflurane and this seems to be a good choice for general anaesthesia in patients with FAP-PT, if they are in an early stage of heart involvement.
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PMID:Anaesthetic management of a patient with familial amyloid polyneuropathy of the Portuguese type. 253 10

The Portuguese type of familial amyloid polyneuropathy (FAP type I), a disabling autosomal dominant disorder with onset in early adult life, is caused by a point mutation in the transthyretin (TTR; previously known as prealbumin) gene. DNA analysis in thirteen European families (one British, two French, one Italian, one Greek, and eight Cypriot) showed that members of all those from Cyprus and Greece, and one from France, carried the FAP type I mutation. Patients from seven of these ten kindreds were not known to have a genetic disease before this study, which demonstrated the mutation in 16 of 43 clinically unaffected relatives. 2 of these were aged over 50 years. TTR gene analysis has useful applications in genetic counselling, including prenatal diagnosis, in identifying the cause of seemingly sporadic cases of amyloid neuropathy, and in epidemiological studies of FAP.
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PMID:Molecular genetics of amyloid neuropathy in Europe. 256 60

An immunocytochemical study of alpha 1-antichymotrypsin (alpha 1ACT) was performed in order to demonstrate its localization and the relationship between alpha 1ACT and senescent cerebral amyloid. We examined 5 brains with dementia of the Alzheimer type (SDAT), a peripheral nerves of familial amyloidotic polyneuropathy (variant transthyretin type, FAP) and dorsal root ganglions of a primary amyloidosis with peripheral neuropathy (AL type, PA). Avidin-biotin-peroxidase complex method and double immunoenzymatic staining method (peroxidase-antiperoxidase method combined with avidin-biotin-alkaline phosphatase complex method) were used. Anti-beta protein serum was used as the marker of cerebral amyloid. About 98% of senile plaques had alpha 1ACT like-immunoreactivity (alpha 1ACTI). All types of plaques showed the immunoreactivity: Core and peripheral of typical plaques, primitive plaques, core plaques and amorphous cerebral amyloid deposits. Although, a part of a senile plaque showed beta protein like-immunoreactivity alone and the other part had alpha 1ACT, many remainder part of a senile plaque had both immunoreactivity. Of the other pathological changes of SDAT, eosinophilic tangles and cerebrovascular amyloid were positive, in contrast, intracellular tangles, granulovacuolar degeneration and Hirano body were negative. The amyloid from FAP had weak alpha 1ACTI and diffusely stained. alpha 1ACTI was seen in the peripheral margin of the amyloid from PA. These results indicate that alpha 1ACT is closely associated with senile plaques formation.
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PMID:[An immunocytochemical study of alpha 1-antichymotrypsin in the senescent cerebral amyloid]. 266 94

Amino-acid sequence analysis of an amyloid fibril protein from a patient with Swedish familial amyloidotic polyneuropathy showed homology with prealbumin but with heterogeneous N-terminal deletions. One-third of the molecules had the same amino acid substitution, methionine for valine in position 30, as in familial amyloidosis of Portuguese, Japanese and Swedish-American type. A protein with the same antigenic properties and size was found in the fibrils of two other patients with Swedish FAP while the amyloid fibrils in two further patients predominantly contained a smaller prealbumin-derived protein. Cyanogen bromide cleavage of this protein revealed no evidence for a methionine residue in position 30.
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PMID:Prealbumin variants in the amyloid fibrils of Swedish familial amyloidotic polyneuropathy. 311 63


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