Abstract：
BACKGROUND:Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 varies, and for a milder form of PMD, there have been some reports of near-normal findings in T1-weighted images but abnormal findings in T2-weighted images. PATIENT:We report the case of a 5-year-old boy diagnosed with a milder form of PMD caused by a novel PLP1 mutation in exon 3: c.300delC (p.I100IfsX13). He had delayed development from several months of age and was able to walk with support at 19 months in spite of the spasticity in his lower extremities. Hypomyelination was noted at 12 months by brain MRI. Motor nerve conduction studies showed decreased velocities with reduced amplitudes. Follow-up MRI at 1-year intervals from 18 months until 55 months of age showed gradual myelination progress. DISCUSSION:The single nucleotide deletion identified in this patient can cause a frameshift and premature termination of PLP1. Via the nonsense-mediated mRNA decay mechanism of this mutation will result in loss-of-function, leading to a milder form of PMD. The present case is compatible with previously reported cases of milder form of PMD. We incidentally identified progressive myelination in this patient by T1-weighted images obtained by serial MRI. This finding adds to our understanding of the pathological stages of a milder form of PMD.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Shiihara T,Watanabe M,Moriyama K,Uematsu M,Sameshima Kdoi
10.1016/j.braindev.2014.06.011subject
Has Abstractpub_date
2015-04-01 00:00:00pages
455-8issue
4eissn
0387-7604issn
1872-7131pii
S0387-7604(14)00159-4journal_volume
37pub_type
杂志文章abstract：:The correlation between the functional and morphological maturation of the auditory pathway was studied in preterm and term infants, children and adults. As to the auditory brainstem response (ABR), peak latencies and I-V interpeak latencies (central transmission) gradually decreased during the third trimester and the...
journal_title：Brain & development
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doi：10.1016/s0387-7604(87)80092-x
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journal_title：Brain & development
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doi：10.1016/s0387-7604(98)00002-3
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(83)80047-3
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journal_title：Brain & development
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journal_title：Brain & development
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journal_title：Brain & development
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doi：10.1016/j.braindev.2019.07.003
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pub_type： 杂志文章
doi：10.1016/s0387-7604(88)80008-1
更新日期：1988-01-01 00:00:00
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journal_title：Brain & development
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doi：10.1016/j.braindev.2012.12.010
更新日期：2014-01-01 00:00:00
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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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pub_type： 杂志文章
doi：10.1016/j.braindev.2011.06.005
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：1992-07-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.07.005
更新日期：2012-05-01 00:00:00
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journal_title：Brain & development
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doi：10.1016/j.braindev.2010.09.011
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journal_title：Brain & development
pub_type： 杂志文章,评审
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.07.003
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80154-9
更新日期：1992-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80004-3
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.11.005
更新日期：2010-04-01 00:00:00
abstract：BACKGROUND:The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS:We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records fro...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.03.025
更新日期：2017-09-01 00:00:00
abstract：:Tourette syndrome (TS) is a neurodevelopmental disorder defined by tics, but most patients also experience bothersome sensory phenomena, in the form of premonitory urges and/or sensory hypersensitivity. Whereas premonitory urges are temporally paired with tics, sensory hypersensitivity is a constant, heightened awaren...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2020.06.003
更新日期：2020-10-01 00:00:00
abstract：:Amongst the motor, mental, cognitive and emotional symptoms of the Rett syndrome (RS) the motor symptoms stand out as the hallmark in analyzing the essential pathophysiology. Summarizing the motor symptoms and searching into the knowledge of relevant basic sciences, this report aims at stressing the pathophysiological...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：
更新日期：1992-05-01 00:00:00
abstract：:This paper reports 504 cases admitted with acute polyradiculoneuritis (AP) to Beijing Children's Hospital from 1975 through 1984. 343 of the 504 cases (68.1%) with AP had respiratory paralysis and in 198/504 (39.3%), tracheotomy was performed. In this study, none of the patients received steroids. We attempted to asse...
journal_title：Brain & development
pub_type： 杂志文章
doi：
更新日期：1988-01-01 00:00:00
abstract：:The number of large myelinated axons was markedly decreased in almost all the intramuscular nerve bundles included in 32 muscle biopsies from patients with Werdnig-Hoffmann disease compared to that in normals. The morphometric analysis of peripheral nerves in 5 epon-embedded sections also showed a selective loss of la...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80040-3
更新日期：1989-01-01 00:00:00
