Publications by authors named "Shuji Matsui"
Article Synopsis
- Pontocerebellar hypoplasia (PCH) is classified into 16 subgroups, with pathogenic variants found in 24 associated genes, including the rare type PCH8.
- PCH8 is characterized by severe developmental delays, increased muscle tone, microcephaly, and specific MRI abnormalities like reduced white matter and brainstem hypoplasia.
- A study reports a patient with a rare homozygous variant in the CHMP1A gene linked to PCH8, providing new insights into the neurological effects of CHMP1A variants despite similar MRI findings to previously studied cases.
We identified the first patient with infantile Refsum disease (IRD), a milder phenotype of peroxisome biogenesis disorder (PBD) caused by a mutated PEX3, and investigated the clinical, molecular and cellular characterization in this patient. The patient presented psychomotor regression, late-onset leukodystrophy, peripheral neuropathy, hearing impairment, a renal cyst, and renal hypertension and survived until the age of 36. Furthermore, fibroblasts from the patient indicated a mosaic pattern of catalase-positive particles (peroxisomes) and numerous peroxisomal membrane structures.
View Article and Find Full Text PDFWe investigated the clinical course of 20 children (persons) with severe motor and intellectual disabilities (SMID) who were treated with noninvasive positive pressure ventilation (NPPV) for respiratory insufficiency. NPPV was effective in 10 of 11 patients treated for acute respiratory failure, and in 7 of 9 patients treated for chronic respiratory failure. Twelve patients were treated with NPPV for more than one year.
View Article and Find Full Text PDF