The long road to diagnosis: recessive PMPCB deficiency hidden behind a dominant familial VCP defect
Mol Genet Metab Rep. 2026 Aug 28;48:101350. doi: 10.1016/j.ymgmr.2026.101350. eCollection 2026 Sep. ABSTRACT Multiple mitochondrial dysfunctions syndrome 6 (MMDS6), caused by biallelic likely pathogenic variants in PMPCB, is an extremely rare autosomal recessive childhood-onset neurodegenerative disorder, with only six reported cases to date, most resulting in early mortality. Pathogenic variants in VCP cause multisystem proteinopathy […]
A mouse model of autosomal dominant spastic ataxia and myopathy caused by a mutation in Tuba4a
Hum Mol Genet. 2026 Aug 25;35(18):ddag084. doi: 10.1093/hmg/ddag084. ABSTRACT Hereditary ataxias are a heterogeneous group of neurodegenerative disorders characterized by impaired balance and coordination, often due to cerebellar dysfunction. Despite advances in identifying genetic causes, animal models remain essential for dissecting underlying mechanisms and testing therapeutic strategies. Here we describe a mouse model of spastic […]
Genotype-Phenotype Correlation in Dominant Optic Atrophy due to OPA1 c.3011T>C (p.Leu1004Pro): A Family-Based Case Series
J Curr Ophthalmol. 2026 Aug 6;38(1):79-86. doi: 10.4103/joco.joco_4_26. eCollection 2026 Jan-Mar. ABSTRACT PURPOSE: To characterize the structural, functional, and optical coherence tomography angigraphy (OCTA) phenotype associated with the OPA1 c3011T>C (p.Leu1004Pro) variant in a multigenerational family with autosomal dominant optic atrophy. METHODS: In this retrospective familial case series, four affected female relatives across three generations […]
A de novo NR2F1 c.330 C > A variant in Bosch-Boonstra-Schaaf optic atrophy syndrome presenting with early-onset developmental and epileptic encephalopathy
Mol Biol Rep. 2026 Aug 17;53(1):1419. doi: 10.1007/s11033-026-12609-w. ABSTRACT BACKGROUND: Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the NR2F1 gene. The syndrome is characterized by a complex phenotype including optic nerve atrophy, global developmental delay, intellectual disability, and seizures. We report a patient with this […]
Generative Adversarial Network-Based Joint Mapping and Localization for Millimeter-Wave Communication Systems
Sensors (Basel). 2026 Jul 7;26(13):4319. doi: 10.3390/s26134319. ABSTRACT In this paper, we propose a novel generative adversarial network (GAN)-based joint localization and mapping (JLAM) method using angle difference of arrival (ADOA) measurements for millimeter-wave (mmWave) communication systems. The proposed method adopts a deep auto-encoder neural network as the discriminator of the GAN and models the […]
UCHL1-Related Dominant Optic Atrophy: Report of Two New Families
Neuroophthalmology. 2025 Aug 20;50(4):381-386. doi: 10.1080/01658107.2025.2548315. eCollection 2026. ABSTRACT Previously, biallelic variants in ubiquitin carboxy-terminal hydrolase L1 (UCHL1) have been associated with spastic paraplegia type 79, an autosomal recessive early-onset neurodegenerative disorder. Recently, heterozygous variants in UCHL1 have been associated with a neurological syndrome with various combinations of optic atrophy, spasticity, ataxia and neuropathy. We […]
Pediatric hereditary optic neuropathies in the United Arab Emirates
Ophthalmic Genet. 2026 Jun 16:1-6. doi: 10.1080/13816810.2026.2674280. Online ahead of print. ABSTRACT PURPOSE: To characterize outpatient pediatric hereditary optic neuropathies in the United Arab Emirates. METHODS: Retrospective case series (2016-2023, inclusive). RESULTS: Thirteen probands were identified (nine males). Thirty-eight percent (5/13) had extraocular symptoms at the time of presentation (e.g. hearing loss or developmental delay). […]
A nationwide overview of the clinical and genetic landscape of inherited eye disorders in Denmark
Ophthalmic Genet. 2026 Jun 10:1-8. doi: 10.1080/13816810.2026.2685298. Online ahead of print. ABSTRACT PURPOSE: To provide the first comprehensive, overview of the Danish Family Archive for Genetic Eye Diseases, a national umbrella registry on inherited eye disorders initiated in 1985. METHODS: A cross-sectional extraction of entries collected over 40 years was performed on 1 May 2025. […]
Generation and characterization of the hiPSC line CSSi023-A (16154) from a patient with ADOA caused by an OPA1 variant
Stem Cell Res. 2026 Jun 1;94:104022. doi: 10.1016/j.scr.2026.104022. Online ahead of print. ABSTRACT Autosomal Dominant Optic Atrophy plus syndrome (ADOA, OMIM #125250) is a mitochondrial optic neuropathy characterized by progressive degeneration of retinal ganglion cells (RGCs), leading to worsening visual impairment. The disease is caused by pathogenic variants in the Optic Atrophy 1 (OPA1) gene, […]
Clinical and Genetic Spectrum of ACO2-Linked Dominant Optic Atrophy
JAMA Ophthalmol. 2026 May 1;144(5):452-462. doi: 10.1001/jamaophthalmol.2026.0634. ABSTRACT IMPORTANCE: Aconitase 2 (ACO2) gene variants are one of the most frequent causes of dominant optic atrophy (DOA). However, the associated phenotypes and genotypes still lack proper characterization. OBJECTIVE: To characterize the clinical and genetic spectrum of ACO2-related DOA and evaluate genotype-phenotype correlations. DESIGN, SETTING, AND PARTICIPANTS: […]