Neurofibromas are the hallmark lesions in Neurofibromatosis 1 (NF1); these tumors are classified as cutaneous, subcutaneous and plexiform. In contrast to cutaneous and subcutaneous neurofibromas, ...plexiform neurofibromas can grow quickly and progress to malignancy. Curcumin, a turmeric-derived polyphenol, has been shown to interact with several molecular targets implicated in carcinogenesis. Here, we describe the impact of different dietary patterns, namely Mediterranean diet (MedDiet) compared to the Western diet (WesDiet), both with or without curcumin, on NF1 patients' health. After six months, patients adopting a traditional MedDiet enriched with 1200 mg curcumin per day (MedDietCurcumin) presented a significant reduction in the number and volume of cutaneous neurofibromas; these results were confirmed in subsequent evaluations. Notably, in one patient, a large cranial plexiform neurofibroma exhibited a reduction in volume (28%) confirmed by Magnetic Resonance Imaging. Conversely, neither unenriched MedDiet nor WesDiet enriched with curcumin exhibited any significant positive effect. We hypothesize that the combination of a polyphenol-rich Mediterranean diet and curcumin was responsible for the beneficial effect observed on NF1. This is, to the best of our knowledge, the first experience with curcumin supplementation in NF1 patients. Our report suggests that an integrated nutritional approach may effectively aid in the management of NF1.
Delayed post‐hypoxic leukoencephalopathy (DPHLE) is a rare demyelinating syndrome that follows an episode of prolonged cerebral hypoxia after a relatively lucid intervening period of variable length. ...Although the pathophysiology still remains obscure, it has been suggested that hypoxic‐metabolic injuries to oligodendrocytes may play a crucial role. We describe the case of a patient with chronic respiratory problems who fell into a coma during morphine therapy. After a brief period of successful recovery, neurocognitive and behavioral disorders suddenly appeared and a diagnosis of DPHLE was made also taking into account the MRI picture. The antioxidant therapy has probably facilitated the almost complete neurological recovery within 4 weeks. A peculiar finding was the presence of anti‐CV2/CRMP5 antibodies in serum, which may stand as potential factors implicated in oligodendrocytes damage.
X-linked adrenoleukodystrophy (X-ALD) is a rare inherited metabolic disease affecting the nervous system and the adrenal glands. It is caused by a mutation of the
gene, resulting in the impaired ...degradation of very long-chain fatty acids and their subsequent accumulation in several organs and tissues. X-ALD is notable for its high phenotypical variability, that includes isolated adrenocortical insufficiency, slowly progressive myelopathy with paraparesis, ataxia, and peripheral neuropathy to severe childhood cerebral forms. Here, we describe the case of an X-ALD patient with a p.Gly343Val mutation in
gene, who presented in adulthood with a spinal syndrome of mild severity, and later developed a progressive cognitive and behavioral syndrome. Our patient showed a striking correlation between clinical phenotype and neuroimaging, including a brain fluoro-2-deoxy-d-glucose positron emission tomography that displayed an atypical cerebral glucose metabolism.
Success and pitfall of anticlotting therapy Fiori, Patrizia; Allegorico, Lia; Capaldo, Guglielmo ...
Journal of the neurological sciences,
October 2021, 2021-10-00, Letnik:
429
Journal Article
Wrong or right decision making? Fiori, Patrizia; Allegorico, Lia; Capaldo, Guglielmo ...
Journal of the neurological sciences,
October 2021, 2021-10-00, Letnik:
429
Journal Article
Neuron specific enolase in a SARS CoV2 patient Fiori, Patrizia; Allegorico, Lia; Capaldo, Guglielmo ...
Journal of the neurological sciences,
October 2021, 2021-10-00, 20211001, Letnik:
429
Journal Article
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition caused by dominant loss‐of‐function mutations of the tumor suppressor gene NF1 that encodes neurofibromin, a negative ...regulator of RAS activity. Mutation analysis of NF1 located at 17q11.2 has been hampered by the large size of the gene, the high rate of new mutations, the lack of mutational clustering, and the presence of several homologous loci. To date, about 80% of the reported NF1 mutations are predicted to result in protein truncation, but very few studies have correlated the causative NF1 mutation with its effect at the protein level. We evaluated a novel diagnostic method to detect truncated forms of neurofibromin in a large cohort of unrelated subjects suspected of having NF1, according to the NIH consensus criteria. Western blot analysis was carried out on protein extracts from patients' leukocytes to highlight the possible presence of altered neurofibromin as a result of mutations in NF1. Truncated neurofibromin was identified in 274/336 patients (81%), confirming the usefulness and reproducibility of the proposed diagnostic approach. Our methodology can be routinely applied in the diagnostic setting, thanks to its simplicity and reliability. Combined with molecular approaches, it may increase the accuracy and efficiency of NF1 genetic testing.
We evaluated a novel diagnostic method to detect truncated forms of neurofibromin in patients fulfilling the clinical criteria for Neurofibromatosis 1. Western blot analysis identified truncated neurofibromin in 274/336 patients (81%). Our results indicate that the proposed technique is cheap and reliable, and could ideally be performed as a preliminary biochemical screening before molecular analysis of the NF1 gene.
We evaluated a novel diagnostic method to detect truncated forms of neurofibromin in patients fulfilling the clinical criteria for Neurofibromatosis 1. Western blot analysis identified truncated neurofibromin in 274/336 patients (81%). Our results indicate that the proposed technique is cheap and reliable, and could ideally be performed as a preliminary biochemical screening before molecular analysis of the NF1 gene.