Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous Variant.

Background And Objectives: We describe 2 long-surviving siblings with a mild phenotype of Joubert syndrome (JBTS) harboring a novel compound heterozygous missense variant in the gene.

Methods: Targeted sequencing data of 2 middle-aged siblings (sister and brother) with JBTS were analyzed.

Results: The patients were older than 60 years and presented with an inborn facial anomaly and ataxia, accompanied by a molar tooth sign on brain MRI.

CDP-ribitol prodrug treatment ameliorates ISPD-deficient muscular dystrophy mouse model.

Ribitol-phosphate modification is crucial for the functional maturation of α-dystroglycan. Its dysfunction is associated with muscular dystrophy, cardiomyopathy, and central nervous system abnormalities; however, no effective treatments are currently available for diseases caused by ribitol-phosphate defects. In this study, we demonstrate that prodrug treatments can ameliorate muscular dystrophy caused by defects in isoprenoid synthase domain containing (ISPD), which encodes an enzyme that synthesizes CDP-ribitol, a donor substrate for ribitol-phosphate modification.

Novel pathogenic gene mutations in Japanese patients with chorea-acanthocytosis.

Objective: To identify mutations in () for Japanese patients with suspected chorea-acanthocytosis (ChAc).

Methods: We performed a comprehensive mutation screen, including sequencing and copy number variation (CNV) analysis of the gene, and chorein Western blotting of erythrocyte ghosts. As the results of the analysis, 17 patients were molecularly diagnosed with ChAc.

Ultrasonographic findings of proximal median neuropathy: A case series of suspected distal neuralgic amyotrophy.

Spontaneous anterior interosseous nerve (AIN) palsy develops following the resolution of nerve pain, which may be considered as distal neuralgic amyotrophy. NA is assumed to have a complex etiology, but an autoimmune mechanism is likely involved. However, precise assessment of the lesion is challenging.

Wobble inosine tRNA modification is essential to cell cycle progression in G(1)/S and G(2)/M transitions in fission yeast.

Inosine (I) at position 34 (wobble position) of tRNA is formed by the hydrolytic deamination of a genomically encoded adenosine (A). The enzyme catalyzing this reaction, termed tRNA A:34 deaminase, is the heterodimeric Tad2p/ADAT2.Tad3p/ADAT3 complex in eukaryotes.