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Association of Novel Pathogenic Variant (p. Ile366Asn) in Gene with Infantile Neuroaxonal Dystrophy.
Int J Mol Sci
January 2025
Department of Human Genetics, School of Public Health, University of Pittsburgh, Pittsburgh, PA 15261, USA.
A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with a comparable condition. We aimed to evaluate a novel coding pathogenic variant c.
View Article and Find Full Text PDFAn estimation of global genetic prevalence of PLA2G6-associated neurodegeneration.
Orphanet J Rare Dis
October 2024
Genomenon, Inc, 206 E. Huron St. Suite 114, Ann Arbor, MI, 48109, USA.
Article Synopsis
- The study focuses on PLA2G6-associated neurodegeneration (PLAN), which includes three diseases with similar symptoms, particularly highlighting infantile neuroaxonal dystrophy (INAD), a condition that affects vision and motor skills from an early age.
- Researchers estimated the genetic prevalence of PLAN using two approaches: collecting genetic variant data from various databases and analyzing literature to find additional relevant variants. They determined that the estimated prevalence ranges from 1 in 987,267 to 1 in 1,570,079 pregnancies.
- The findings indicate a significant underdiagnosis of PLAN and suggest a higher presence of PLA2G6 variants in African and Asian populations, emphasizing the need for better diagnostic efforts
Infantile Neuroaxonal Dystrophy: Case Report and Review of Literature.
Medicina (Kaunas)
August 2024
Department of Biochemistry, RAK College of Medical Sciences, RAKMHSU, Ras Al-Khaimah P.O. Box 11172, United Arab Emirates.
Infantile neuroaxonal dystrophy (INAD) is a rare neurodegenerative disorder affecting 1:1,000,000 children. It results from pathogenic variants in the PLA2G6 gene located on chromosome 22q13.1.
View Article and Find Full Text PDFThe Clinical, Radiological and Genetic Spectrum of -Associated Neurodegeneration: An Experience From a Tertiary Center.
Tremor Other Hyperkinet Mov (N Y)
August 2024
Department of Neurology, National Institute of Mental Health and Neurosciences, Bengaluru, 560029, India.
Background: Despite being the second most common type of neurodegeneration with brain iron accumulation, there is limited literature on -associated neurodegeneration (PLAN) within the Asian ethnicity, particularly in the Indian context.
Methods: We conducted a retrospective observational study on patients with pathogenic/likely pathogenic variants based on exome sequencing.
Results: We identified 26 patients (22 families, 15 males) of genetically-confirmed PLAN with a median age of 22.
A rare inherited homozygous missense variant in influences susceptibility to infantile neuroaxonal dystrophy: a case report.
Transl Pediatr
March 2024
Department of Pediatric Health Care, Huzhou Maternity & Child Health Care Hospital, Huzhou, China.
Background: Infantile neuroaxonal dystrophy (INAD) is an ultra-rare early-onset autosomal recessive neurodegenerative disorder due to variants. The clinical symptoms of INAD patients display considerable diversity, and many variants are still not thoroughly investigated in relation to their associated clinical presentations.
Case Description: A 16-month-old boy was admitted to our hospital due to regression of acquired motor and speech abilities that had persisted for 4 months.
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