Recessive mutations in VPS13D cause childhood onset movement disorders
Sign Up to like & getrecommendations! Published in 2018 at "Annals of Neurology"
DOI: 10.1002/ana.25204
Abstract: VPS13 protein family members VPS13A through VPS13C have been associated with various recessive movement disorders. We describe the first disease association of rare recessive VPS13D variants including frameshift, missense, and partial duplication mutations with a… read more here.
Keywords: movement; recessive mutations; childhood onset; movement disorders ... See more keywords
Childhood-onset disabilities and lifetime earnings growth: A longitudinal analysis.
Sign Up to like & getrecommendations! Published in 2023 at "Health economics"
DOI: 10.1002/hec.4687
Abstract: This study offers insights into lifetime earnings growth differences between individuals with and without childhood-onset disabilities (COD) defined as disabilities whose onset occurred before an individual's 16th birthday. We use a newly available database linking… read more here.
Keywords: lifetime earnings; growth; earnings growth; onset disabilities ... See more keywords
Truncating variants in UBAP1 associated with childhood‐onset nonsyndromic hereditary spastic paraplegia
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23950
Abstract: Hereditary spastic paraplegia (HSP) is a group of disorders with predominant symptoms of lower‐extremity weakness and spasticity. Despite the delineation of numerous genetic causes of HSP, a significant portion of individuals with HSP remain molecularly… read more here.
Keywords: truncating variants; hereditary spastic; onset nonsyndromic; spastic paraplegia ... See more keywords
Childhood‐Onset Choreo‐Dystonia Due to a Recurrent Novel Homozygous Nonsense HPCA Variant: Case Series and Literature Review
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders Clinical Practice"
DOI: 10.1002/mdc3.13529
Abstract: Biallelic variants in HPCA were linked to isolated dystonia (formerly DYT2) in 2015. Since then, the clinical spectrum of HPCA‐related disorder has expanded up to including a complex syndrome encompassing neurodevelopmental delay, generalized dystonia with… read more here.
Keywords: dystonia due; onset choreo; childhood onset; dystonia ... See more keywords
A PDE10A de novo mutation causes childhood‐onset chorea with diurnal fluctuations
Sign Up to like & getrecommendations! Published in 2017 at "Movement Disorders"
DOI: 10.1002/mds.27175
Abstract: Recently, de novo and bi-allelic mutations in PDE10A, encoding a cyclic nucleotide phosphodiesterase selectively expressed in striatal medium spiny neurons, have been recognized as a cause of childhood-onset chorea. Brain MRI consistently showed striking bilateral… read more here.
Keywords: diurnal fluctuations; onset chorea; chorea; mri ... See more keywords
Genotypic and phenotypic characteristics of Korean children with childhood-onset Leber’s hereditary optic neuropathy
Sign Up to like & getrecommendations! Published in 2020 at "Graefe's Archive for Clinical and Experimental Ophthalmology"
DOI: 10.1007/s00417-020-04757-x
Abstract: Purpose We sought to identify the phenotypic and genotypic characteristics of Korean children with genetically confirmed Leber’s hereditary optic neuropathy (LHON). Methods The medical records of 64 genetically confirmed LHON patients were reviewed. Seventeen patients… read more here.
Keywords: childhood; childhood onset; onset group; lhon ... See more keywords
Clinical presentation and outcomes of childhood-onset membranous lupus nephritis
Sign Up to like & getrecommendations! Published in 2017 at "Pediatric Nephrology"
DOI: 10.1007/s00467-017-3743-z
Abstract: BackgroundBest practices for managing childhood-onset membranous lupus nephritis (MLN) are not yet established. Most studies involve primarily or exclusively adult cohorts or pediatric cohorts with combinations of pure or mixed membranous and proliferative nephritis.MethodsWe performed… read more here.
Keywords: membranous lupus; onset membranous; childhood onset; lupus nephritis ... See more keywords
Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Nephrology"
DOI: 10.1007/s00467-020-04525-3
Abstract: Background Focal segmental glomerulosclerosis (FSGS) is an etiologically heterogeneous disorder. Genetic FSGS may be either limited to the kidney or part of a genetic syndrome with other systemic involvement. At least 21 and 34 genes… read more here.
Keywords: focal segmental; trim8 gene; gene; childhood onset ... See more keywords
Developmental Associations between Psychopathic Traits and Childhood-Onset Conduct Problems
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Psychopathology and Behavioral Assessment"
DOI: 10.1007/s10862-019-09779-2
Abstract: The three dimensions of psychopathic traits in childhood predict high levels of conduct problems. Theoretical conceptions suggest that, in addition to predicting the onset of conduct problems, traits also contribute to their developmental pathways. However,… read more here.
Keywords: childhood onset; conduct problems; psychopathic traits; onset conduct ... See more keywords
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairment.
Sign Up to like & getrecommendations! Published in 2021 at "Metabolic brain disease"
DOI: 10.1007/s11011-021-00671-1
Abstract: Isolated defects in the mitochondrial respiratory chain complex II (CII; succinate-ubiquinone oxidoreductase) are extremely rare and mainly result from bi-allelic mutations in one of the nuclear encoded subunits: SDHA, SDHB and SDHD, which comprise CII… read more here.
Keywords: bilateral optic; childhood onset; optic atrophy; sdha gene ... See more keywords
Childhood-onset multifocal motor neuropathy with IgM antibodies to GM2 and GalNac-GD1a
Sign Up to like & getrecommendations! Published in 2020 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.08.013
Abstract: BACKGROUND Multifocal motor neuropathy (MMN) is an acquired immune-mediated form of neuropathy characterized by upper and asymmetric limb weakness without sensory loss. The mean age of onset is 40 years (range, 20-70 years), and childhood-onset MMN is… read more here.
Keywords: galnac gd1a; childhood onset; igm antibodies; anti ... See more keywords