An identical abnormal pattern was detected by means of (99m)Tc-hexamethyl-propyleneamine-oxime single-photon emission computed tomography in two siblings with infantile neuroaxonal dystrophy. The markedly decreased cerebellar perfusion, along with the early motor symptoms, characteristic magnetic resonance imaging and pathologic findings, points to a preferential cerebellar involvement in this disease. A relative increase in the perfusion to the basal ganglia correlated with the magnetic resonance imaging abnormalities, highly resembling that of Hallervorden-Spatz disease in one of the males, at this site.
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http://dx.doi.org/10.1016/j.pediatrneurol.2004.08.004 | DOI Listing |
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 PDFOrphanet J Rare Dis
October 2024
Genomenon, Inc, 206 E. Huron St. Suite 114, Ann Arbor, MI, 48109, USA.
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 PDFTremor 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.
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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