Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Diagnosis of familial amyloidotic polyneuropathy in France.

Clinical genetics - 1 Dec 1990

Satier F, Nichols W C, Benson M D

Abstract excerpt

Two cases of familial amyloidotic polyneuropathy (FAP) in a French family are reported. Clinical onset was in the fifth and sixth decades with decreased sensation in the lower limbs followed by involvement of the upper extremities. Motor changes appeared later and evolved to restrict ambulation. Cardiac involvement with congestive heart failure and arrhythmias was the cause of death. DNA analysis was performed on...

Topics

Aged
Amyloidosis
Cardiomyopathy, Hypertrophic
France
Gene Amplification
Humans
Male
Middle Aged
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Polyneuropathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prealbumin

Spinocerebellar Degenerations

Source

Identifiers

PMID: 1981182
DOI: 10.1111/j.1399-0004.1990.tb03615.x

Genes

FAP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1981182-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Diagnosis of familial amyloidotic polyneuropathy in France.PMID 1981182Read ↗

The first case of familial amyloidotic polyneuropathy (FAP Met30) in the Finnish population.Semantic proximity Read ↗

Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy.Semantic proximity Read ↗

[Diagnosis of familial amyloid polyneuropathy--gene analysis with primer-directed enzymatic amplification of DNA, isolation of plasma variant prealbumin and immunohistochemical identification of tissue amyloid protein].Semantic proximity Read ↗

A transthyretin variant (alanine 49) associated with familial amyloidotic polyneuropathy in a French family.Semantic proximity Read ↗

A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.Semantic proximity Read ↗

Familial amyloidotic polyneuropathy: a new transthyretin position 30 mutation (alanine for valine) in a family of German descent.Semantic proximity Read ↗

[A sporadic case of late onset familial amyloidotic polyneuropathy preceded by cardiac involvement].Semantic proximity Read ↗

Mutation in gelsolin gene in Finnish hereditary amyloidosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.