January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
January 2015 in “Journal of Neuromuscular Diseases” This case report describes two boys with Danon disease, initially misdiagnosed due to increased transaminases, who exhibited cardiac issues and muscle pseudohypertrophy.
March 2024 in “Cancer Research” This study found that eliminating senescent cells using senolytic drugs effectively prevented and reversed paclitaxel-induced peripheral neuropathy in mice.
1 citations
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August 2021 in “Movement disorders clinical practice” This case report describes the first documented occurrence of hemi-Isaac's syndrome or acquired neuromyotonia affecting only one side of the body, with symptoms improving after immunomodulatory treatment.
July 2023 in “Clinical, cosmetic and investigational dermatology” This case report described a 32-year-old woman with plica neuropathica who was diagnosed with schizophrenia after initially seeking dermatological care for her severely matted hair, illustrating a rare presentation of schizophrenia and the importance of considering psychiatric conditions in such cases.
4 citations
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April 2017 in “F1000Research” This study found that diazepam had an exaggerated effect on GABA-related inhibitory tone in diabetic neuropathic mice compared to normal mice, potentially due to mitochondrial dysfunction affecting neurosteroid synthesis.
8 citations
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April 2017 in “Journal of The Royal Society Interface” This study found that keratin intermediate filaments in the hair of GAN patients are altered, showing decreased diffraction signals and increased stiffness, strength, and extensibility.
3 citations
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December 2023 in “Pain Medicine” This case report described how peripheral nerve stimulation provided significant pain relief and reversal of dermatological symptoms for a female patient with complex regional pain syndrome after conventional treatments failed.
December 2022 in “The Turkish Journal of Pediatrics” This study reported that hair microscopy can help diagnose rare pediatric neurological diseases, as specific hair characteristics were linked to conditions like giant axonal neuropathy, Griscelli syndrome, and Menkes disease.
June 2022 in “Annals of Indian Academy of Neurology” This case report describes a rare association where herpes zoster infection may have triggered the first attack of NMOSD with systemic vasculitis in a patient, suggesting potential overlaps in immunopathogenesis.
58 citations
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November 1969 in “British Journal of Dermatology” This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.
10 citations
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April 2003 in “Clinical neurology and neurosurgery” This case study reports a 33-year-old man with autoimmune thyroiditis and alopecia universalis experiencing reversible CNS demyelination, possibly due to autoimmune activity against CNS antigens.
2 citations
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January 1998 in “Neurourology and Urodynamics” This report describes a case of adrenomyeloneuropathy where serial urodynamic studies revealed neurogenic bladder dysfunction linked to demyelinating lesions in the patient.
November 2025 in “Practical Neurology” In this case report, a 31-year-old woman with severe multisystem lupus vasculitis initially presented with generalized pain and rapidly worsening neuropathy, ultimately improving with cyclophosphamide and prednisolone treatment. The authors highlight diagnostic challenges, particularly in interpreting autoantibody results after IVIG therapy.
January 2024 in “Wiadomości Lekarskie” This study observed that patients with type 2 diabetes and sensorineural hearing loss exhibited significantly higher levels of peripheral myelin protein 22, particularly in those with microangiopathies, suggesting demyelinating processes in the auditory system.
8 citations
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June 2025 in “Stem Cell Research & Therapy” This review discusses the potential of exosome therapy for treating diabetic peripheral neuropathy but highlights the need for more robust preclinical trials before clinical application.
33 citations
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December 1982 in “Developmental Medicine & Child Neurology” The authors reviewed cases of six children with both hair-shaft abnormalities and neurological disorders, noting that such hair defects may indicate neurological conditions, including potentially treatable metabolic errors.
October 2023 in “Nepal journal of dermatology, venereology & leprology” In this case report, researchers described a rare association of Pyoderma Gangrenosum with Neurofibromatosis, noting the occurrence of bone marrow suppression and acute Telogen Effluvium after treatment with Azathioprine, underlining the importance of monitoring for myelosuppression.
April 2007 in “CRC Press eBooks” This article discusses various vitamin deficiencies and their neurological implications without providing new clinical results; it serves as an informative chapter on nutrient-related neurological conditions.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.
This study presents a case of neuropsychiatric lupus in a 50-year-old woman, highlighting the severe impact on quality of life and the necessity for aggressive treatment to improve outcomes.
September 2018 in “Practical diabetes” This review indicates that sodium valproate might benefit diabetic peripheral neuropathy patients, but evidence is limited and inconsistent, so it should be reserved for treatment-resistant cases.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” In this case study, a 26-year-old female with PLEC mutations and features of muscular dystrophy and myasthenia gravis showed significant improvement in symptoms following steroid treatment.
May 2022 in “Journal of Neurology Neurosurgery & Psychiatry” This case report highlights the overlap of Sjögren’s Syndrome and Systemic Lupus Erythematosus, noting major salivary gland enlargement and bilateral facial nerve involvement, which may better explain the patient's symptoms than lupus alone.
3 citations
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October 2013 in “International Journal of Rheumatic Diseases” This case report found that a patient with cutaneous polyarteritis nodosa experienced rare and severe manifestations, including digital gangrene and a breast ulcer, requiring aggressive treatment and resulting in below-knee amputation.
January 2026 in “Indian Journal of Paediatric Dermatology” This case report describes a rare co-existence of Becker nevus and plexiform neurofibroma in a child with genetically confirmed neurofibromatosis type 1, offering insights into the potential cellular and molecular links between these lesions.
18 citations
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February 2023 in “Journal of Clinical Medicine” This study reported that neuropathic pain is prevalent in 6.7% of hospitalized COVID-19 patients during the acute phase and 34.3% of long COVID patients, highlighting the need for additional research.
35 citations
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January 2022 in “Frontiers in Neurology” This review utilizes clinical vignettes to detail various pain syndromes associated with multiple sclerosis, including their pathophysiology and management strategies, highlighting conditions like central neuropathic pain, Lhermitte's phenomenon, and trigeminal neuralgia as they relate to different lesion types.
The researchers reported that a child with epilepsy developed encephalopathy after an asymptomatic COVID-19 infection, confirmed by clinical and laboratory assessments showing post-COVID19 effects.
May 2025 in “The Journal of Rheumatology” In this case report, a 64-year-old woman diagnosed with both NMOSD and SLE showed mild improvement in vision and recovered from thrombocytopenia after treatment with glucocorticoids and Rituximab, highlighting the importance of accurate diagnosis and tailored treatment for overlapping autoimmune disorders.