Crouzon Syndrome
2025 May 25. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–. ABSTRACT Crouzon syndrome is a genetically inherited disorder characterized by multiple suture craniosynostosis (premature fusion of the coronal sutures), leading to skull and facial deformities. This condition was first described in 1912 by French physician Octave Crouzon, who identified both a mother […]
AFG3L2-Related Neurologic Disorders
2011 May 17 [updated 2025 Sep 18]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. ABSTRACT CLINICAL CHARACTERISTICS: AFG3L2-related neurologic disorders comprise four phenotypes. Spinocerebellar ataxia type 28 (SCA28), the most common phenotype, is characterized by young adult onset (26.5 […]
Machine Learning Applied to Visual Fields of Dominant Optic Atrophy Patients
Transl Vis Sci Technol. 2025 Jun 2;14(6):20. doi: 10.1167/tvst.14.6.20. ABSTRACT PURPOSE: Identification and quantification of characteristic visual field (VF) patterns in patients with dominant optic atrophy (DOA) using the archetypal analysis (AA) machine learning algorithm. METHODS: In this retrospective study, we collected 30-2 or 24-2 VFs performed with Humphrey Visual Field analyzer from 144 patients […]
TCIRG1-Related Osteopetrosis
2025 Aug 28. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. ABSTRACT CLINICAL CHARACTERISTICS: TCIRG1-related osteopetrosis is characterized by growth deficiency, pathologic fractures of dense but brittle bones, limping gait with bone pain, hypocalcemia that can result in seizures, and […]
Longitudinal Visual Biomarkers in Dominant Optic Atrophy: A Systematic Review and Meta-Analysis
Clin Exp Ophthalmol. 2025 Aug;53(6):652-659. doi: 10.1111/ceo.14543. Epub 2025 May 7. ABSTRACT BACKGROUND: Dominant Optic Atrophy (DOA) causes slowly progressive visual decline usually beginning in childhood. As new therapies come to clinical trial, the choice of biomarkers to be used as clinical trial endpoints has become a critical question to be addressed. METHODS: We undertook […]
MFN2 Hereditary Motor and Sensory Neuropathy
2005 Feb 18 [updated 2025 Mar 27]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. ABSTRACT CLINICAL CHARACTERISTICS: MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner […]
Cerebellar Ataxia-deafness-narcolepsy (ADCA) syndrome. Description of a variable family phenotype
Acta Neurol Belg. 2025 Oct;125(5):1395-1399. doi: 10.1007/s13760-025-02776-1. Epub 2025 Apr 26. ABSTRACT INTRODUCTION: Cerebellar ataxia-deafness-narcolepsy syndrome (ADCA-DN) is a very rare polymorphic subtype of autosomal dominant ataxia type 1 (ADCA type 1). It begins in adulthood, and may also be associated with other variable symptoms as optic atrophy, cataracts, psychosis, depression or sensory neuropathy. PATIENTS […]
Novel in vivo models of autosomal optic atrophy reveal conserved pathological changes in neuronal mitochondrial structure and function
FASEB J. 2025 Apr 15;39(7):e70497. doi: 10.1096/fj.202403271R. ABSTRACT Autosomal optic atrophy (AOA) is a form of hereditary optic neuropathy characterized by the irreversible and progressive degermation of the retinal ganglion cells. Most cases of AOA are associated with a single dominant mutation in OPA1, which encodes a protein required for fusion of the inner mitochondrial […]
Incidence and health burden of 20 rare neurological diseases in South China from 2016 to 2022: a hospital-based observational study
Orphanet J Rare Dis. 2025 Apr 8;20(1):163. doi: 10.1186/s13023-025-03704-5. ABSTRACT BACKGROUND: Rare neurological diseases (RNDs) result in severe health burdens worldwide. Data from China are limited. We aimed to investigate the health burden of 20 RNDs in Guangdong Province (GD), which contains two-thirds of the population of South China. METHODS: The hospitalization data of 20 […]
Models of Bosch-Boonstra-Schaaf optic atrophy syndrome reveal genotype-phenotype correlations in brain structure and behavior
Dis Model Mech. 2025 Oct 1;18(10):dmm052426. doi: 10.1242/dmm.052426. Epub 2025 Sep 22. ABSTRACT Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare, autosomal dominant neurodevelopmental disorder caused by pathogenic variants in NR2F1, characterized by developmental delay, intellectual disability, optic nerve anomalies and autism spectrum disorder. Most pathogenic variants cluster within the highly conserved DNA-binding domain (DBD) […]