Publications by authors named "Atsuko Arisaka"
Background: Primary ciliary dyskinesia (PCD) is a rare genetic disease caused by defects in various genes affecting ciliary function. It is currently unclear why DRC1 gene variants are a relatively frequent cause of disease in Japanese and Korean patients.
Methods: A 12-year-old Japanese girl with bronchiectasis was suspected of PCD and examined using whole-exome sequencing (WES).
Article Synopsis
- Histiocytic necrotizing lymphadenitis (HNL) is a painful inflammatory disease with an unclear cause, and this study focused on the role of interferon (IFN)-α in its development and diagnosis.
- The study involved 47 HNL patients and 43 others with similar conditions, using various techniques to measure IFN-stimulated genes and serum levels of IFN-α.
- Results showed higher levels of ISG and serum IFN-α in HNL patients compared to those with malignant lymphoma, suggesting that IFN-α could be a key factor in HNL and a useful marker for its diagnosis and monitoring.
Purpose: Cerebellar hypoplasia and atrophy (CBHA) in children is an extremely heterogeneous group of disorders, but few comprehensive genetic studies have been reported. Comprehensive genetic analysis of CBHA patients may help differentiating atrophy and hypoplasia and potentially improve their prognostic aspects.
Methods: Patients with CBHA in 176 families were genetically examined using exome sequencing.
Epileptic-dyskinetic encephalopathies are rare epilepsies characterized by early-onset epileptic encephalopathies (EOEEs) with involuntary movement. Herein, we investigated the impact of gene variants in epileptic-dyskinetic encephalopathies. Four independent patients from four families who exhibited involuntary movements were recruited from Tokyo Metropolitan Neurological Hospital.
View Article and Find Full Text PDFBackground: ECHS1 is a key enzyme of the valine catabolic pathway and oxidation of fatty acids. In ECHS1 deficiency (ECHS1D), accumulation of toxic intermediates from the valine induces neurodegeneration, which presents Leigh syndrome (LS). Therefore, valine restriction is suggested as an effective therapy.
View Article and Find Full Text PDFAggressive immunosuppressive therapies have been proposed to treat primary angiitis of the central nervous system (PACNS). Here, we report the first successfully stabilized case of childhood, small-vessel PACNS with intravenous immunoglobulin (IVIG) therapy. A 12-year-old boy was admitted to our hospital complaining of recurrent headaches and upper-left homonymous quadrantanopia, since the age of 11 years.
View Article and Find Full Text PDFA loss of function mutation in (Xq26.3) is responsible for Christianson syndrome in males. We identified a novel splicing mutation (NM_006359.
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