Cerebral iron deposition in neurodegeneration

P Dusek, T Hofer, J Alexander, PM Roos, JO Aaseth - Biomolecules, 2022 - mdpi.com
Disruption of cerebral iron regulation appears to have a role in aging and in the
pathogenesis of various neurodegenerative disorders. Possible unfavorable impacts of iron …

MRI of neurodegeneration with brain iron accumulation

S Lehéricy, E Roze, C Goizet… - Current opinion in …, 2020 - journals.lww.com
Recent MRI advances allow depicting differences between the various subtypes of NBIA,
providing a useful analytical framework for clinicians. Standardization of protocols for image …

Brain MRI pattern recognition in neurodegeneration with brain iron accumulation

JH Lee, JY Yun, A Gregory, P Hogarth… - Frontiers in …, 2020 - frontiersin.org
Most neurodegeneration with brain iron accumulation (NBIA) disorders can be distinguished
by identifying characteristic changes on magnetic resonance imaging (MRI) in combination …

Metals and metal-nanoparticles in human pathologies: from exposure to therapy

JI Lachowicz, LI Lecca, F Meloni, M Campagna - Molecules, 2021 - mdpi.com
An increasing number of pathologies correlates with both toxic and essential metal ions
dyshomeostasis. Next to known genetic disorders (eg, Wilson's Disease and β-Thalassemia) …

Neurodegeneration with brain iron accumulation

SA Schneider - Rosenberg's Molecular and Genetic Basis of …, 2020 - Elsevier
Syndromes with neurodegeneration with brain iron accumulation (NBIA) are a group of
neurodegenerative disorders associated with abnormalities in brain iron metabolism and …

Movement disorders associated with hypogonadism

P Gonzalez‐Latapi, M Sousa… - Movement Disorders …, 2021 - Wiley Online Library
ABSTRACT A variety of movement disorders can be associated with hypogonadism.
Identification of this association may aid in guiding workup and reaching an accurate …

Patterns of neurological manifestations in Woodhouse-Sakati syndrome

S Bohlega, AH Abusrair, FS Al-Ajlan, N Alharbi… - Parkinsonism & Related …, 2019 - Elsevier
Abstract Background Woodhouse–Sakati syndrome (WSS) is a rare autosomal recessive
disease with characteristic neuro-endocrine manifestations. WSS encompasses …

[HTML][HTML] Woodhouse-Sakati Syndrome

SA Bohlega, A Abusrair - 2021 - europepmc.org
Virtually all individuals with Woodhouse-Sakati syndrome (WSS) have the endocrine
findings of hypogonadism (evident at puberty) and progressive childhood-onset hair …

Woodhouse–Sakati syndrome in an Indian patient with a novel pathogenic variant

SD Amalnath, Jothivanan, J Oshima… - American Journal of …, 2024 - Wiley Online Library
Woodhouse–Sakati syndrome consists of hypogonadism, diabetes mellitus, alopecia, ECG
abnormalities, and dystonia. This condition is caused by the loss of function of the DCAF17 …

[HTML][HTML] Woodhouse-Sakati syndrome (WSS): a case report of 3 Saudi sisters with urogenital anomalies

MS Alharbi - Saudi Medical Journal, 2021 - ncbi.nlm.nih.gov
Woodhouse-Sakati syndrome (WSS) is a rare genetic condition of autosomal recessive
inheritance pattern. The disease is characterized by a group of disorders, including diabetes …