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Targeted metabolomics detects a putatively diagnostic signature in plasma and dried blood spots from head and neck paraganglioma patients
Head and neck paragangliomas (HNPGLs), rare chemoresistant tumors curable only with surgery, are strongly influenced by genetic predisposition, hence...
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Molecular consequences of PQBP1 deficiency, involved in the X-linked Renpenning syndrome
Mutations in the PQBP1 gene ( polyglutamine-binding protein-1 ) are responsible for a syndromic X-linked form of neurodevelopmental disorder (XL-NDD)...
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Childhood cerebral adrenoleukodystrophy (CCALD) in France: epidemiology, natural history, and burden of disease - A population-based study
BackgroundX-linked adrenoleukodystrophy (ALD) is a rare metabolic and neurodegenerative disorder belonging to the group of leukodystrophies, with an...
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Beyond gait and balance: urinary and bowel dysfunction in X-linked adrenoleukodystrophy
ObjectiveTo characterize the prevalence, onset, and burden of urinary and bowel dysfunction in adult patients with adrenoleukodystrophy (ALD) and to...
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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts
The role of genetic testing in neurologic clinical practice has increased dramatically in recent years, driven by research on genetic causes of...
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Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia
Purpose of ReviewThe hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity....
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Adult-onset vanishing white matter in a patient with EIF2B3 variants misdiagnosed as multiple sclerosis
BackgroundVanishing white matter (VWM) is an autosomal recessive disorder characterized by childhood ataxia with central hypomyelination. Adult-onset...
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Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series
Peroxisome biogenesis disorders—Zellweger spectrum disorders (PBD-ZSD)—are primarily autosomal recessive disorders caused by mutations in any of 13 PEX ...
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Development and function of the fetal adrenal
The adrenal cortex undergoes multiple structural and functional rearrangements to satisfy the systemic needs for steroids during fetal life,...
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Viral-mediated gene therapy in pediatric neurological disorders
BackgroundDue to the broad application of next-generation sequencing, the molecular diagnosis of genetic disorders in pediatric neurology is no...
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Optical coherence tomography in adult adrenoleukodystrophy: a cross-sectional and longitudinal study
BackgroundAdrenoleukodystrophy (ALD) encompasses different neurological phenotypes, ranging from the most severe cerebral forms (C-ALD) to the less...
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Adrenal insufficiency
Adrenal insufficiency (AI) is a condition characterized by an absolute or relative deficiency of adrenal cortisol production. Primary AI (PAI) is...
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Früh beginnende Demenzen
BackgroundDue to the demographic change dementia is a common and dramatically increasing reason for medical presentations. In approximately 8% of...
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Overall intact cognitive function in male X-linked adrenoleukodystrophy adults with normal MRI
BackgroundMen with the hereditary peroxisomal disorder X-linked adrenoleukodystrophy (ALD) are at risk of develo** inflammatory demyelinating...
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Disease progression in women with X-linked adrenoleukodystrophy is slow
BackgroundOver 80% of women with X-linked adrenoleukodystrophy (ALD) develop spinal cord disease in adulthood for which treatment is supportive only....
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Viral vector platforms within the gene therapy landscape
Throughout its 40-year history, the field of gene therapy has been marked by many transitions. It has seen great strides in combating human disease,...
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