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 […]
Natural history of patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophy
medRxiv [Preprint]. 2025 Feb 25:2025.02.23.25322342. doi: 10.1101/2025.02.23.25322342. ABSTRACT OBJECTIVE: Autosomal dominant pathogenic variants in the WFS1 gene can cause a broad spectrum of WFS1-related disorders. These disorders present with a range of phenotypic manifestations, including isolated low-frequency sensorineural hearing loss, optic nerve atrophy accompanied by low- to mid-frequency sensorineural hearing loss, isolated diabetes mellitus, and […]
A novel frameshift variant leads to familial osteopetrosis with variable phenotypes in a Chinese Han consanguineous family
BMC Med Genomics. 2025 Feb 24;18(1):36. doi: 10.1186/s12920-025-02101-y. ABSTRACT Osteopetrosis, a group of highly heterogeneous genetic bone disorders, is characterized by deafness, increased bone density, hepatosplenomegaly, pancytopenia and intellectual disability. Osteopetrosis can be divided into three subtypes: autosomal recessive osteopetrosis (ARO), intermediate autosomal recessive osteopetrosis (IARO), and autosomal dominant osteopetrosis (ADO). CLCN7 has been reported […]
Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort
Clin Genet. 2025 Aug;108(2):124-133. doi: 10.1111/cge.14719. Epub 2025 Feb 20. ABSTRACT Mitochondria-associated paraplegin dysfunction is primarily linked to spastic paraplegia; however, genetic alterations in SPG7 have been associated with a broader spectrum of clinical symptoms. To identify disease-causing variants in the SPG7 gene, 437 patients with spastic ataxia, mitochondrial dysfunction-associated symptoms, or motoneuron lesions detected […]
“Adrift From the World”: Exploring the Lived Experiences of Individuals Affected by an Inherited Optic Neuropathy in the United Kingdom-A Qualitative Study
Value Health. 2025 Aug 6:S1098-3015(25)02490-8. doi: 10.1016/j.jval.2025.07.023. Online ahead of print. ABSTRACT OBJECTIVES: Little is understood about the lived experiences of individuals affected by inherited optic neuropathies (IONs) in the United Kingdom. The aim of this study was to understand how autosomal dominant optic atrophy (DOA) and Leber hereditary optic neuropathy, the 2 more commonly […]