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Exploring the phenotypic spectrum and osteopenia mechanisms in Yunis-Varón syndrome.
Genet Med Open
March 2024
Medical Genetics Division, Department of Pediatrics, CHU Sainte-Justine, Montreal, QC, Canada.
Article Synopsis
- Biallelic variants in specific genes cause Yunis-Varón syndrome (YVS), which involves issues like skeletal deformities, facial abnormalities, and neurological problems.
- A study of five new YVS cases revealed symptoms aligning with YVS and neurological conditions, such as brain malformations and developmental delays.
- Research showed that in mice, osteopenia (low bone density) was more linked to reduced bone formation than bone degradation, emphasizing the need for further studies on genetic impacts and symptoms.
FIG4-associated disease manifesting as rapidly progressive amyotrophic lateral sclerosis.
Neurol Sci
September 2024
Neurology Department, Hospital de Egas Moniz, Centro Hospitalar de Lisboa Ocidental, Lisbon, Portugal.
Case Report: Association of a Variant of Unknown Significance in the Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders.
Front Neurosci
December 2020
Department of Psychiatry and Psychotherapy, University Medical Center Göttingen, Göttingen, Germany.
Background: Modern genetics have in many ways revolutionized clinical routine and have, for instance, shown that formerly distinct disease entities relate to common pathogenic mutations. One such example is the connection between dementia and amyotrophic lateral sclerosis (ALS) in a continuous disease spectrum affirmed by the discovery of shared mutations.
Case Report: We describe a new variant in the gene in a patient with slowly progressing frontotemporal dementia (FTD) and probable primary lateral sclerosis (PLS).
Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
Hum Mol Genet
January 2015
Division of Neuroscience, INSPE-Institute of Experimental Neurology
Mutations of FIG4 are responsible for Yunis-Varón syndrome, familial epilepsy with polymicrogyria, and Charcot-Marie-Tooth type 4J neuropathy (CMT4J). Although loss of the FIG4 phospholipid phosphatase consistently causes decreased PtdIns(3,5)P₂ levels, cell-specific sensitivity to partial loss of FIG4 function may differentiate FIG4-associated disorders. CMT4J is an autosomal recessive neuropathy characterized by severe demyelination and axonal loss in human, with both motor and sensory involvement.
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