Whither Hope for Pharmacological Treatment of Charcot-Marie-Tooth Disease...
Charcot-Marie-Tooth disease type 1A (CMT1A) is a dominantly inherited, slowly progressive, often-disabling symmetrical distal sensorimotor polyneuropathy, caused by duplication of 1.5 Mb on the short...
View ArticleHigh-Dosage Ascorbic Acid Treatment in Charcot-Marie-Tooth Disease Type 1A...
ImportanceNo current medications improve neuropathy in subjects with Charcot-Marie-Tooth disease type 1A (CMT1A). Ascorbic acid (AA) treatment improved the neuropathy of a transgenic mouse model of...
View ArticleAcquired Neuromyotonia Heralding Recurrent Thymoma in Myasthenia Gravis
ImportanceAcquired neuromyotonia is increasingly recognized as an autoimmune disorder, frequently associated with antibodies against voltage-gated potassium channel complex proteins. We present a case...
View ArticleMutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy...
ImportancePatients with rare diseases and complex clinical presentations represent a challenge for clinical diagnostics. Genomic approaches are allowing the identification of novel variants in genes...
View ArticleAcquired Neuromyotonia Heralding Recurrent Thymoma in Myasthenia Gravis
ImportanceAcquired neuromyotonia is increasingly recognized as an autoimmune disorder, frequently associated with antibodies against voltage-gated potassium channel complex proteins. We present a case...
View ArticleMutations in VRK1 Associated With Complex Motor and Sensory Axonal Neuropathy...
ImportancePatients with rare diseases and complex clinical presentations represent a challenge for clinical diagnostics. Genomic approaches are allowing the identification of novel variants in genes...
View ArticleRole of Neurologists and Diagnostic Tests on the Management of Distal...
ImportanceDistal symmetric polyneuropathy (DSP) is a prevalent condition that results in high costs from diagnostic testing. However, the role of neurologists and diagnostic tests in patient care is...
View ArticleThe Future of Research in Neuropathy
This viewpoint focuses on the technological advances in nucleotide sequencing and genetic engineering and on our deepening understanding of the molecular processes underlying Schwann cell–axon...
View ArticleMutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia
ImportanceThe family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods....
View ArticleIL-6 Receptor Blockade in Highly Active Neuromyelitis Optica Spectrum Disorder
This retrospective observational study evaluates the long-term safety and efficacy of tocilizumab, a humanized antibody targeting the interleukin 6 receptor, in 8 female patients with neuromyelitis...
View ArticleTargeting the Interleukin 6 Receptor to Treat Neuromyelitis Optica
The number of different antibody-associated disorders of the central nervous system and the clinical phenotypes encountered are increasing steadily. Because these patients have potentially reversible...
View ArticleRisk of Neuropathy in Patient With Biopsy-Verified Celiac Disease
This population-based study showed that celiac disease was associated with a 2.5-fold increased risk of later neuropathy, including chronic inflammatory demyelinating neuropathy, autonomic neuropathy,...
View ArticleBlastic Plasmacytoid Dendritic Cell Neoplasm
A blastic plasmacytoid dendritic cell neoplasm (BPDCN) is a rare hematologic, malignant neoplasm that characteristically presents with violaceous cutaneous lesions and involves bone marrow....
View ArticleIL-6 Receptor Blockade in Highly Active Neuromyelitis Optica Spectrum Disorder
This retrospective observational study evaluates the long-term safety and efficacy of tocilizumab, a humanized antibody targeting the interleukin 6 receptor, in 8 female patients with neuromyelitis...
View ArticleTargeting the Interleukin 6 Receptor to Treat Neuromyelitis Optica
The number of different antibody-associated disorders of the central nervous system and the clinical phenotypes encountered are increasing steadily. Because these patients have potentially reversible...
View ArticleRisk of Neuropathy in Patient With Biopsy-Verified Celiac Disease
This population-based study showed that celiac disease was associated with a 2.5-fold increased risk of later neuropathy, including chronic inflammatory demyelinating neuropathy, autonomic neuropathy,...
View ArticleDejerine Hand Phenomenon
A man in his mid-60s had a 6-week progression of motor and sensitive disturbances in all 4 limbs. He had a history of episodic cervicalgia but no active neck pain. Examination revealed distal 3/5...
View ArticleSubacute Imbalance in a Renal Transplant Patient
A woman in her 50s presented with a 1-month history of gait unsteadiness and imbalance, suspected to be due to neuropathy, but she then returned to the emergency department with 2 successive transient...
View ArticleImportance of Rare Subtypes in Peripheral Neuropathy
This review article describes rare localizations of peripheral neuropathy, including the appropriate diagnostic evaluation and available treatments.
View ArticleA Woman With Blurred Vision and Distal Paresthesias
This case report describes a patient with mild visual blurring and distal paresthesias and discusses the laboratory and radiologic findings, clinical course, and pathologic findings.
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