ArticleNeurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology2017
Minor salivary gland biopsy for the diagnosis of familial amyloid polyneuropathy.
Article in Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- American Society of Hematology 2026 guidelines on diagnosis of light chain amyloidosis.Blood advances · 2026Guideline
- Minimal invasive biopsies are highly sensitive for amyloid detection in hereditary transthyretin amyloidosis with polyneuropathy.Journal of the peripheral nervous system : JPNS · 2025Article
- Optimal practices for the management of hereditary transthyretin amyloidosis: real-world experience from Japan, Brazil, and Portugal.Orphanet journal of rare diseases · 2023Review
- Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features.Annals of clinical and translational neurology · 2023Article
- Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition.Arquivos de neuro-psiquiatria · 2023Article
- Cutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages.Annals of clinical and translational neurology · 2022Article
- Transdisciplinarity in the approach to amyloidosis.Revista de la Facultad de Ciencias Medicas (Cordoba, Argentina) · 2021Article
- Abdominal fat pad biopsies exhibit good diagnostic accuracy in patients with suspected transthyretin amyloidosis.Orphanet journal of rare diseases · 2020Article
- The frequency of central nervous system complications in the Cypriot cohort of ATTRV30M neuropathy transplanted patients.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Visualization of multiple organ amyloid involvement in systemic amyloidosis usingEuropean journal of nuclear medicine and molecular imaging · 2018Article
- News on the journal Neurological Sciences in 2017.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2018Article
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The diagnosis of Val30Met familial amyloidotic polyneuropathy (FAP) is based on genetic tests, clinical manifestations, familial history and biopsy of peripheral tissues (e.g. rectum, abdominal fat pad, sural nerve, and minor salivary gland) to confirm the presence of amyloid deposits. The aim of this study was to determine the frequency of amyloid deposits in minor salivary glands biopsied from FAP patients and to investigate whether an association exists between the presence of these deposits and clinical features. Seventeen patients with FAP were submitted to minor salivary gland biopsy to confirm the presence of amyloid deposits. The histopathology of the salivary glands confirmed glandular amyloid deposits in nine symptomatic patients (sensitivity of 75.0%). In general, FAP patients who tested positive for glandular amyloid deposits exhibited significantly higher frequencies of sensorimotor and dysautonomic dysfunctions (p = 0.001) compared with those who tested negative. None of the patients reported xerostomia. Minor salivary gland biopsy may help confirm the diagnosis of FAP in symptomatic cases, as it is noninvasive, easy to execute, and causes minimal discomfort to patients.
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