Abstract：
:Several single gene disorders can potentially be overlooked in the differential diagnostic evaluation of patients with multiple sclerosis (MS). Pelizaeus-Merzbacher disease and spastic paraplegia type 2 are allelic X-linked disorders associated with defective myelination of the central nervous system and mutations in PLP1. Neurological symptoms are occasionally observed in female carriers of these mutations. Two women - the proposita (Pt1) and her mother (Pt2) - reported walking difficulties since adolescence and showed progressive cognitive decline. Their neurological examinations revealed spastic gait, pyramidal tract involvement and distal muscle atrophy in the legs. Peripheral neuropathy and diffuse white matter (WM) changes on brain MRI were also observed. Both patients had a preliminary diagnosis of primary progressive MS. Using a targeted method in next generation sequencing, the novel heterozygous c.210T>G/p.Y70* in PLP1 was identified in Pt2. The same mutation was also found in Pt1 but not in five healthy relatives. The mutation showed moderate-to-severe skewed X inactivation in tissues, and Western blotting revealed a significant reduction of PLP1 and DM20 in the sural nerve of Pt2. In conclusion a mother and daughter presented an X-linked dominant disorder with skewed X inactivation. The authors suggest that PLP1 testing might be considered in the evaluation of women with spastic paraparesis, cognitive decline and WM changes.
journal_name
J Neurol Scijournal_title
Journal of the neurological sciencesauthors
Rubegni A,Battisti C,Tessa A,Cerase A,Doccini S,Malandrini A,Santorelli FM,Federico Adoi
10.1016/j.jns.2017.01.069subject
Has Abstractpub_date
2017-04-15 00:00:00pages
198-202eissn
0022-510Xissn
1878-5883pii
S0022-510X(17)30078-3journal_volume
375pub_type
杂志文章abstract：BACKGROUND:Clinical disagreement over antiplatelet (AP) resumption in patients with primary intracranial hemorrhage (ICH) has long existed. This meta-analysis aimed to evaluate the benefits of AP resumption on preventing ischemic or thromboembolic events against its risks of promoting ICH recurrence or hematoma expansi...
journal_title：Journal of the neurological sciences
pub_type： 杂志文章,meta分析,评审
doi：10.1016/j.jns.2017.11.009
更新日期：2018-01-15 00:00:00
abstract：OBJECTIVE:We carried out a meta-analysis focusing on the relationships between rs1137070 C>T and rs1799836 A>G polymorphisms in the MAO gene as a modifier of Parkinson disease (PD) susceptibility. METHOD:A literature search of the Cochrane Library Database, Web of Science, PubMed, CINAHL, EMBASE, and the Chinese Biome...
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pub_type： 杂志文章,meta分析
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journal_title：Journal of the neurological sciences
pub_type： 临床试验,杂志文章
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pub_type： 杂志文章
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pub_type： 杂志文章
doi：10.1016/j.jns.2016.01.030
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journal_title：Journal of the neurological sciences
pub_type： 杂志文章
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更新日期：1978-07-01 00:00:00
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