Abstract：
:Myotonic dystrophy (DM) is an autosomal dominant neuromuscular disease with an estimated incidence of 1 in 8000 and is the most common form of muscular dystrophy affecting adults. An unstable, untranslated part of the myotonic dystrophy protein kinase gene on the long arm of chromosome 19, composed of CTG repeats, is a genetic marker for DM. We have developed a fast non-radioactive polymerase chain reaction (PCR) procedure to detect the (CTG)n repeat expansion in DM patients and their relatives. Genomic DNA extracted from peripheral blood lymphocytes was amplified by PCR using specific primers to flank the region containing the triplets. To improve the amplification of this CG-rich region, either 10% glycerol or rTth DNA polymerase XL (extra long) was added to the reaction mixture, allowing amplification of huge expansions otherwise not polymerized by PCR. The PCR products were Southern blotted and the expansion revealed using a fluorescein-labelled (CTG)10 probe. We compared our results with those obtained in 24 patients and relatives using genomic digestion followed by radioactive Southern blot; in all cases the results overlapped. The same technique was used for prenatal diagnosis in pregnant DM mothers. We conclude that this new method is reliable for the genetic testing of DM patients.
journal_name
J Neuroljournal_title
Journal of neurologyauthors
Brugnoni R,Morandi L,Brambati B,Briscioli V,Cornelio F,Mantegazza Rdoi
10.1007/s004150050220subject
Has Abstractpub_date
1998-05-01 00:00:00pages
289-93issue
5eissn
0340-5354issn
1432-1459journal_volume
245pub_type
临床试验,杂志文章,随机对照试验abstract：:Amyotrophic lateral sclerosis (ALS), which is the most serious form of degenerative motor neuron disease in adults, is characterized by upper and lower motor neuron degeneration, skeletal muscle atrophy, paralysis, and death. Some patients with respiratory-dependent ALS die of sudden cardiac arrest or anoxic encephalo...
journal_title：Journal of neurology
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journal_title：Journal of neurology
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更新日期：2011-10-01 00:00:00
abstract：:Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is a common autoimmune encephalitis presenting with psychosis, dyskinesias, autonomic dysfunction and seizures. The underlying autoantibodies against the NR1 subunit are directly pathogenic by disrupting synaptic NMDAR currents. However, antibody titers correlate...
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abstract：: ...
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更新日期：2018-12-01 00:00:00
abstract：:Pontocerebellar hypoplasia type 2 (PCH2) is a very rare autosomal recessive disorder. We report two unrelated female patients born to consanguineous parents presenting with this condition. Patient 1 showed a classical clinical/neuroradiological phenotype of PCH2 with dyskinesia/dystonia. Patient 2 had a neonatal onset...
journal_title：Journal of neurology
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abstract：OBJECTIVES:To evaluate daily life management and functional outcome of Idarucizumab administration in case of emergency situations in patients with Dabigatran treatment. DESIGN:Multicenter observational registry study. SETTING:All hospitals with full neurological departments (n = 6) in Munich, Germany INCLUDED PATIEN...
journal_title：Journal of neurology
pub_type： 杂志文章,多中心研究
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abstract：:Cerebral venous thrombosis (CVT) affects mainly working-aged individuals. Functional recovery after CVT is generally considered good with about 3/4 of patients achieving short-term independence. However, vascular events, long-term functional outcome, and employment after CVT remain poorly investigated. We identified c...
journal_title：Journal of neurology
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313594
更新日期：1983-01-01 00:00:00
abstract：:A boy was suspected of having meningoencephalitis probably of viral origin, although all microbiological, including virological, tests were negative. Postmortem examination revealed a dissecting aortic aneurysm and disseminated intravascular coagulation involving the central nervous system exclusively. The clinical ev...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00313465
更新日期：1981-01-01 00:00:00
abstract：BACKGROUND:Recently, therapeutic attempts to control motor choreatic hyperkinesia of Huntington's disease (HD) by means of pallidal deep brain stimulation (Gp-DBS) were successful. With respect to the clinical effects of Gp-DBS in juvenile hypokinetic-rigid HD (jHD; Westphal variant), only one single-case has been repo...
journal_title：Journal of neurology
pub_type： 杂志文章
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更新日期：2018-07-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章,评审
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abstract：:Levodopa therapy is essential for patients in the advanced stages of Parkinson's disease. However, at early stages, DA agonist therapy has similar efficacy in the treatment of parkinsonism and a lower incidence of motor complications compared to levodopa therapy several years after the initiation of the therapy. The m...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-013-7230-6
更新日期：2014-03-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/BF00329161
更新日期：1976-04-23 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
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更新日期：2014-03-01 00:00:00
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pub_type： 历史文章,杂志文章
doi：10.1007/s00415-017-8644-3
更新日期：2018-02-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-003-0214-1
更新日期：2003-11-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10334-3
更新日期：2020-12-23 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-014-7333-8
更新日期：2014-06-01 00:00:00
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doi：10.1007/BF00313342
更新日期：1980-01-01 00:00:00
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pub_type： 杂志文章
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pub_type： 杂志文章,评审
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更新日期：2014-07-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
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更新日期：2001-06-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-006-0498-z
更新日期：2007-08-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
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更新日期：2020-10-19 00:00:00
abstract：BACKGROUND AND PURPOSE:Stratification of patients with transient ischemic attack (TIA) or ischemic stroke (IS) by risk of recurrent stroke can contribute to optimized secondary prevention. We therefore aimed to assess cardiovascular risk factor profiles of consecutive patients hospitalized with TIA/IS to stratify the r...
journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-007-0590-z
更新日期：2007-11-01 00:00:00
abstract：:The posterior reversible encephalopathy syndrome (PRES) is a neurological disorder of (sub)acute onset characterized by varied neurological symptoms, which may include headache, impaired visual acuity or visual field deficits, disorders of consciousness, confusion, seizures, and focal neurological deficits. In a major...
journal_title：Journal of neurology
pub_type： 杂志文章,评审
doi：10.1007/s00415-016-8377-8
更新日期：2017-08-01 00:00:00
abstract：OBJECTIVES:The outcome of aphasia at 3 months is variable in patients with moderate/severe stroke. The aim was to predict 3-month aphasia outcome using prediction models including initial severity in addition to the interaction between lesion size and location at the acute phase. METHODS:Patients with post-stroke apha...
journal_title：Journal of neurology
pub_type： 杂志文章
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更新日期：2019-06-01 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-020-10271-1
更新日期：2020-10-21 00:00:00
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journal_title：Journal of neurology
pub_type： 杂志文章
doi：10.1007/s00415-005-0430-y
更新日期：2005-03-01 00:00:00
