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Correlation between neuroimaging, neurological phenotype, and functional outcomes in Wilson’s disease
IntroductionWilson’s disease (WD) is associated with a variety of movement disorders and progressive neurological dysfunction. The aim of this study...
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Deep neurological phenoty** in oculo-dento-digital syndrome
ObjectivesOculodentodigital dysplasia (ODDD) is a rare autosomal dominant congenital malformation syndrome characterized by high penetrance and great...
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Characterizing the neurological phenotype of the hyperinsulinism hyperammonemia syndrome
BackgroundHyperinsulinism hyperammonemia (HI/HA) syndrome is caused by activating mutations in GLUD1 , encoding glutamate dehydrogenase (GDH)....
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GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome
BackgroundIdentification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and...
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A novel frameshift variant in the ADA2 gene of a patient with a neurological phenotype: a case report
BackgroundAdenosine deaminase 2 (ADA2) deficiency is an inherited autoinflammatory syndrome caused by a defect in the ADA2 gene. Most common...
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Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report
BackgroundWhite-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported...
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Identifying high-risk neurological phenotypes in adult-onset classic monogenic autoinflammatory diseases: when should neurologists consider testing?
BackgroundMonogenic autoinflammatory disorders result in a diverse range of neurological symptoms in adults, often leading to diagnostic delays....
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Early neurological deterioration in Wilson’s disease: a systematic literature review and meta-analysis
IntroductionNeurological deterioration, soon after anti-copper treatment initiation, is problematic in the management of Wilson’s disease (WD) and...
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Neurological symptoms in adults with Gaucher disease: a systematic review
IntroductionGaucher disease (GD) is classically divided into three types, based on the presence or absence of neurological signs and symptoms....
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Musculoskeletal and neurological manifestations in a cohort of Egyptian Familial Mediterranean fever patients: genotype-phenotype correlation
BackgroundFamilial Mediterranean Fever (FMF) is a periodic auto-inflammatory disease with multiple systemic manifestations. This study aims to...
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Ethylmalonic Encephalopathy: a literature review and two new cases of mild phenotype
BackgroundEthylmalonic encephalopathy (EE) is a rare intoxication-type metabolic disorder with multisystem involvement. It is caused by mutations in ETHE1...
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Rare genetic brain disorders with overlap** neurological and psychiatric phenotypes
Understanding rare genetic brain disorders with overlap** neurological and psychiatric phenotypes is of increasing importance given the potential...
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Sjögren’s syndrome with and without neurological involvement
ObjectiveNeurological manifestations of Sjögren’s syndrome can be severe but also treatment-responsive. We aimed to systematically evaluate...
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Motor-neuron-disease-like phenotype associated with IgLON5 disease
A growing spectrum of neurological manifestations are being recognized in association with IgLON5 autoimmunity, including recent reports of...
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Inflammasomes in neurological disorders — mechanisms and therapeutic potential
Inflammasomes are molecular scaffolds that are activated by damage-associated and pathogen-associated molecular patterns and form a key element of...
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Genetic etiology of progressive pediatric neurological disorders
BackgroundThe aim of the study was to characterize molecular diagnoses in patients with childhood-onset progressive neurological disorders of...
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A narrative review of the therapeutic and remedial prospects of cannabidiol with emphasis on neurological and neuropsychiatric disorders
BackgroundThe treatment of diverse diseases using plant-derived products is actively encouraged. In the past few years, cannabidiol (CBD) has emerged...
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Kdm6a-CNN1 axis orchestrates epigenetic control of trauma-induced spinal cord microvascular endothelial cell senescence to balance neuroinflammation for improved neurological repair
Cellular senescence assumes pivotal roles in various diseases through the secretion of proinflammatory factors. Despite extensive investigations into...
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Neurological manifestation of HEV infection: still a rare disease entity?
Hepatitis E virus (HEV) infection is the most common form of viral hepatitis and is reported to cause neurological manifestation in up to 30% of...
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Differential diagnosis of chorea (guidelines of the German Neurological Society)
IntroductionChoreiform movement disorders are characterized by involuntary, rapid, irregular, and unpredictable movements of the limbs, face, neck,...