Abstract：
OBJECTIVES:Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clinical management; however, diagnosis is frequently challenging and can be delayed, due to phenotypic heterogeneity. Comprehensive genomic analysis could overcome this disadvantage. The objectives of this study were to determine the prevalence of ataxia-telangiectasia (A-T) and A-T-like DNA-repair defects in Japan and to determine the utility of comprehensive genetic testing of presumptively diagnosed patients in facilitating early diagnosis. METHODS:A nationwide survey of diseases presumably caused by DNA-repair defects, including A-T, was performed. Additionally, comprehensive next-generation sequencing (NGS) analysis, targeting known disease-causing genes, was conducted. RESULTS:Sixty-three patients with A-T or other diseases with characteristics of DNA-repair defects were identified. Thirty-four patients were genetically or clinically definitively diagnosed with A-T (n = 22) or other DNA-repair defects (n = 12). Genetic analysis of 17 presumptively diagnosed patients revealed one case of ataxia with oculomotor apraxia type 1 (AOA1); one ataxia with oculomotor apraxia type 2 (AOA2); two types of autosomal dominant spinocerebellar ataxia (SCA5, SCA29); two CACNA1A-related ataxias; one microcephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR); and one autosomal dominant KIF1A-related disorder with intellectual deficit, cerebellar atrophy, spastic paraparesis, and optic nerve atrophy. The diagnostic yield was 58.8%. CONCLUSION:Comprehensive genetic analysis of targeted known disease-causing genes by NGS is a powerful diagnostic tool for subjects with indistinguishable neurological phenotypes resembling DNA-repair defects.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Kashimada A,Hasegawa S,Nomura T,Shiraku H,Moriyama K,Suzuki T,Nakajima K,Mizuno T,Imai K,Sugawara Y,Morio T,Kumada S,Takagi Mdoi
10.1016/j.braindev.2018.09.007subject
Has Abstractpub_date
2019-02-01 00:00:00pages
150-157issue
2eissn
0387-7604issn
1872-7131pii
S0387-7604(18)30244-4journal_volume
41pub_type
杂志文章abstract：PURPOSE:We attempted to evaluate the ability of 125 preschool and school children with autism spectrum disorder (ASD children) to understand the intentions of those speaking to them using prosody of the voice, by comparing it with that of 119 typically developing children (TDC) and 51 development-age-matched children w...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.001
更新日期：2017-11-01 00:00:00
abstract：:Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neur...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.01.008
更新日期：2007-10-01 00:00:00
abstract：:A 5-year-old boy with acute cerebellar ataxia was examined by means of magnetic resonance imaging (MRI) and was found to have a lesion showing low and high signal intensity in T1- and T2-weighted images, respectively, in the left cerebellar peduncle in the acute phase. The lesion disappeared in the convalescent phase....
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pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80032-4
更新日期：1989-01-01 00:00:00
abstract：:Previously we have observed different characteristic chromatographic ultraviolet absorbancy profiles at 280 nm for urinary protein precipitates from patients with behavioral disorders. The purpose with this study was to look for similar changes in urinary protein excretion from the grossly disabled patients with the R...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80042-5
更新日期：1985-01-01 00:00:00
abstract：:Ohtahara syndrome (OS) is characterized by frequent tonic spasms, with or without clustering, of early onset within a few months of life, and a suppression-burst (S-B) pattern in electroencephalography (EEG). Tonic spasms occur in not only waking but also sleeping state in most cases. Partial seizures are observed in ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00392-8
更新日期：2002-01-01 00:00:00
abstract：:Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.03.002
更新日期：2007-10-01 00:00:00
abstract：:The authors report a case of early infantile epileptic encephalopathy (EIEE) associated with hemimegalencephaly. The etiological factors in previously published cases of EIEE are reviewed and attention is focused on the high proportion of cases associated with neuronal migration disorders. We suggest that idiopathic c...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80356-1
更新日期：1992-11-01 00:00:00
abstract：:Childhood leukodystrophies are a growing category of neurological disorders in pediatric neurology practice. With the help of new advanced genetic studies such as whole exome sequencing (WES) and whole genome sequencing (WGS), the list of childhood heritable white matter disorders has been increased to more than one h...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2017.01.001
更新日期：2017-05-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.07.013
更新日期：2011-06-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.014
更新日期：2010-01-01 00:00:00
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journal_title：Brain & development
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doi：10.1016/j.braindev.2007.05.002
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.002
更新日期：2013-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.10.007
更新日期：2005-11-01 00:00:00
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journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(98)00052-7
更新日期：1998-12-01 00:00:00
abstract：:Alternating hemiplegia in childhood (AHC) has clinically characteristic features which are easily defined and recognizable. Laboratory investigations were basically normal although they were extensively examined during and between attacks. There is still much debate about its etiology, particularly its relation to mig...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(12)80144-6
更新日期：1992-09-01 00:00:00
abstract：:The objective of this pilot study was to test the validity and reliability of a new scale, the Ability for Basic Movement Scale for Children (ABMS-C). A total of 45 pediatric patients with disabilities (aged 0.1-8.8 years; 29 males, 16 females) participated in this prospective study. To prove the validity and reliabil...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.12.001
更新日期：2011-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.010
更新日期：2013-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00178-4
更新日期：2001-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80282-8
更新日期：1992-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80025-8
更新日期：1991-05-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80057-6
更新日期：1983-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.10.006
更新日期：2015-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.04.003
更新日期：2007-11-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2003.12.008
更新日期：2004-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(93)90081-i
更新日期：1993-11-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80059-0
更新日期：1985-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80117-6
更新日期：1986-01-01 00:00:00
abstract：:In the present study, we investigated age-related changes in pteridine levels and enzymatic activity responsible for tetrahydrobiopterin biosynthesis in mouse tissues. Until about 15 weeks after the birth, the remarkable change of tetrahydrobiopterin (BH4) was observed in all tissues tested. Between 20 and 50 weeks af...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00144-3
更新日期：2000-09-01 00:00:00
abstract：:We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80010-8
更新日期：1984-01-01 00:00:00
abstract：BACKGROUND:The effect of rituximab on acute disseminated encephalomyelitis (ADEM) followed by recurrent optic neuritis (ON) is not yet known. PATIENT:We are reporting the case of a 4-year-old Japanese girl who was diagnosed with anti-myelin oligodendrocyte glycoprotein (MOG) antibody positive ADEM followed by recurren...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.03.011
更新日期：2018-08-01 00:00:00
