PLP1 mutations and central demyelination
نویسندگان
چکیده
منابع مشابه
Combined Central and Peripheral Demyelination.
Demyelinating disorders are very common, but remains isolated to the part of nervous system they involve. However, infrequently, combined involvement of central and peripheral nervous system with demyelinating process have been described. We report one such rare case, with possible theories of common etiological basis. We present a middle aged male patient with Chronic Inflammatory Demyelinatin...
متن کاملMolecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations
BACKGROUND The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP). PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients. METHODS Forty-eight ...
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15 صفحه اولCentral pontine and extrapontine myelinolysis: the osmotic demyelination syndromes.
Correspondence to: Dr R J Martin, Department of Neurology, Gloucestershire Royal Hospital, Great Western Road, Gloucester GL1 3NN, UK; roswell.martin@gloucr-tr. swest.nhs.uk _________________________ C entral pontine myelinolysis (CPM) was described by Adams and colleagues in 1959 as a disease affecting alcoholics and the malnourished. The concept was extended from 1962 with the recognition tha...
متن کاملEffects of Intron 1 Sequences on Human PLP1 Expression: Implications for PLP1-Related Disorders
Alterations in the myelin proteolipid protein gene ( PLP1) may result in rare X-linked disorders in humans such as Pelizaeus-Merzbacher disease and spastic paraplegia type 2. PLP1 expression must be tightly regulated since null mutations, as well as elevated PLP1 copy number, both lead to disease. Previous studies with Plp1-lacZ transgenic mice have demonstrated that mouse Plp1 ( mPlp1) intron ...
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ژورنال
عنوان ژورنال: Neurology: Clinical Practice
سال: 2017
ISSN: 2163-0402,2163-0933
DOI: 10.1212/cpj.0000000000000346