ArticleAnnals of clinical and translational neurology2022
Cutaneous amyloid is a biomarker in early ATTRv neuropathy and progresses across disease stages.
Article in Annals of clinical and translational neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 26 citations in OpenAlex.
- Polyneuropathy in hereditary and wildtype transthyretin amyloidosis, comparison of key clinical features and red flags.Scientific reports · 2025Article
- Skin Biopsy as a Diagnostic Tool for ATTRv Amyloid Neuropathy in the UK.Journal of the peripheral nervous system : JPNS · 2025Article
- Hereditary Transthyretin Amyloidosis in Israel: Genetic Landscape and Clinical Characteristics.European journal of neurology · 2025Article
- Early nociceptive evoked potentials in symptomatic and asymptomatic transthyretin mutation carriers.Frontiers in neurology · 2025Article
- Monitoring patients and asymptomatic carriers with hereditary transthyretin amyloidosis: regional protocol of Emilia-Romagna ATTR working group.Frontiers in neurology · 2025Article
- Serum neurofilament light chain levels correlate with small fiber related parameters in patients with hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2024Article
- Cardiovascular autonomic failure in hereditary transthyretin amyloidosis and TTR carriers is an early and progressive disease marker.Clinical autonomic research : official journal of the Clinical Autonomic Research Society · 2024Article
- Detailed clinical, physiological and pathological phenotyping can impact access to disease-modifying treatments in ATTR carriers.Journal of neurology, neurosurgery, and psychiatry · 2024Article
- Nerve pathology of microangiopathy and thromboinflammation in hereditary transthyretin amyloidosis.Annals of clinical and translational neurology · 2024Article
- Amyloid detection and typing yield of skin biopsy in systemic amyloidosis and polyneuropathy.Annals of clinical and translational neurology · 2023Article
- [Neurological manifestations of ATTR amyloidosis].Innere Medizin (Heidelberg, Germany) · 2023Review
- Ser77Tyr transthyretin amyloidosis in Israel: Initial manifestations and diagnostic features.Annals of clinical and translational neurology · 2023Article
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo determine the sensitivity and specificity of cutaneous amyloid deposition in relation to patient-reported measures in the earliest disease stage of hereditary ATTR amyloidosis (ATTRv).
methodsIn a cross-sectional study, we analyzed 88 individuals with TTR mutations, 47 of whom were in the earliest disease stage and without clinically evident neuropathy, 12 healthy controls, and 13 disease controls with diabetes. All participants' neuropathy symptoms and signs were assessed using validated patient and clinician-reported measures and 3-mm skin punch biopsies were immunostained using protein gene product 9.5 and Congo Red.
resultsAmyloid can be detected in the earliest disease stages in up to 86% of patients with ATTRv amyloidosis. Amyloid was not detected in healthy individuals or individuals with diabetic peripheral neuropathy supporting a sensitivity of 86% and a specificity of 100%. The cutaneous deposition of amyloid correlates with neuropathy sensory symptoms, measured with the Neuropathy Total Symptom Score-6 (R = 0.46, p < 0.01); pain measured with the Brief Pain Symptom Inventory (R = 0.44, p < 0.05); autonomic symptoms, measured with the Boston Autonomic Symptom Questionnaire (R = 0.38, p < 0.05); and quality of life measured with the Norfolk Diabetic Neuropathy Quality of Life Questionnaire (R = 0.44, p < 0.05). Individuals with amyloid deposition were more likely to have sensory symptoms, pain, autonomic impairment, and reduced quality of life than ATTRv patients without amyloid deposition.
interpretationThese findings have implications for understanding the earliest manifestations of the clinical phenotype of ATTRv-associated neuropathy, for the pathophysiological construct of disease staging, and for timing the introduction of disease-modifying therapy.
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