ArticleJournal of neurology2015
Oculoleptomeningeal Amyloidosis associated with transthyretin Leu12Pro in an African patient.
Article in Journal of neurology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Cognitive manifestations and brain integrity in hereditary transthyretin amyloidosis: a systematic review.Journal of neurology · 2025Pooled it
- Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis.International journal of cardiology. Heart & vasculature · 2025Article
- Clinical and Genotype Characteristics and Symptom Migration in Patients With Mixed Phenotype Transthyretin Amyloidosis from the Transthyretin Amyloidosis Outcomes Survey.Cardiology and therapy · 2024Article
- 3-O-Methyltolcapone and Its Lipophilic Analogues Are Potent Inhibitors of Transthyretin Amyloidogenesis with High Permeability and Low Toxicity.International journal of molecular sciences · 2023Article
- Clinical considerations in early-onset cerebral amyloid angiopathy.Brain : a journal of neurology · 2023Review
- Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis.Journal of neurology, neurosurgery, and psychiatry · 2022Review
- A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.Orphanet journal of rare diseases · 2022Review
- Surgically treated intradural spinal manifestation of hereditary amyloidogenic transthyretin amyloidosis - A case report and scoping review of the literature.Brain & spine · 2022Article
- Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis.Neurology. Clinical practice · 2021Article
- Impact of Genetic Testing in Transthyretin (ATTR) Cardiac Amyloidosis.Current heart failure reports · 2019Review
- Contributions of Animal Models to the Mechanisms and Therapies of Transthyretin Amyloidosis.Frontiers in physiology · 2019Review
- Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis.Journal of neuromuscular diseases · 2019Review
- The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.Journal of neurology · 2019Article
- Intracranial and systemic manifestations of familial leptomeningeal amyloidosis, as seen on CT and MRI.Radiology case reports · 2018Article
- Non-coding variants contribute to the clinical heterogeneity of TTR amyloidosis.European journal of human genetics : EJHG · 2017Article
- Current and future treatment of amyloid diseases.Journal of internal medicine · 2016Review
Corrections and comments
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Authors and funding
19 authors at 5 institutions in 2 countries.
Funding
Abstract
Oculoleptomeningeal amyloidosis is a rare manifestation of hereditary transthyretin (TTR) amyloidosis. Here, we present the first case of leptomeningeal amyloidosis associated with the TTR variant Leu12Pro mutation in an African patient. A 43-year-old right-handed Nigerian man was referred to our centre with rapidly progressive neurological decline. He presented initially with weight loss, confusion, fatigue, and urinary and erectile dysfunction. He then suffered recurrent episodes of slurred speech with right-sided weakness. He went on to develop hearing difficulties and painless paraesthesia. Neurological examination revealed horizontal gaze-evoked nystagmus, brisk jaw jerk, increased tone, brisk reflexes throughout and bilateral heel-shin ataxia. Magnetic resonance imaging showed extensive leptomeningeal enhancement. Cerebrospinal fluid analysis showed a raised protein of 6.4 g/dl. Nerve conduction studies showed an axonal neuropathy. Echocardiography was characteristic of cardiac amyloid. TTR gene sequencing showed that he was heterozygous for the leucine 12 proline mutation. Meningeal and brain biopsy confirmed widespread amyloid angiopathy. TTR amyloidosis is a rare cause of leptomeningeal enhancement, but should be considered if there is evidence of peripheral or autonomic neuropathy with cardiac or ocular involvement. The relationship between different TTR mutations and clinical phenotype, disease course, and response to treatment remains unclear.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.