Abstract:
:A 10-year-old boy developed progressive dystonia and dementia. His symptoms had begun at age 2 1/2 years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric . He had dysphagia and urinary incontinence, and functioned at a 4-year-old level of mental development. The mean percentages of beta-hexosaminidase A measured in serum, leukocytes, and fibroblasts by the heat denaturation method, each on three separate assays, were 5.9, 9.8, and 13.0%, respectively. These values are higher than in Tay-Sachs disease but are similar to levels seen in late-onset or adult cases of GM2 gangliosidosis. This patient appears to represent a new phenotype of juvenile GM2 gangliosidosis having dystonia as the dominant symptom.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Meek D,Wolfe LS,Andermann E,Andermann Fdoi
10.1002/ana.410150408subject
Has Abstractpub_date
1984-04-01 00:00:00pages
348-52issue
4eissn
0364-5134issn
1531-8249journal_volume
15pub_type
杂志文章abstract:OBJECTIVE:Both animal and human data suggest that noradrenergic stimulation may enhance motor performance after brain damage. We conducted a placebo-controlled, double-blind and crossover design study to investigate the effects of noradrenergic stimulation on the cortical motor system in hemiparetic stroke patients. M...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22237
更新日期:2011-02-01 00:00:00
abstract::Microelectrode recording methods for stereotactic localization of the subthalamic nucleus (STN) and surrounding structures are described. These methods accurately define targets for chronic deep brain stimulation in the treatment of Parkinson's disease. Mean firing rates and a burst index were determined for all recor...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410440407
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abstract::In Machado-Joseph disease (MJD) gene, there is a C/G polymorphism immediately after the CAG repeat; the expanded CAG repeat tract is exclusively followed by C, whereas about half of wild-type alleles are followed by G. Using this C/G polymorphism, we have engineered the small interfering RNA (siRNA) which decreased th...
journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:2004-07-01 00:00:00
abstract:OBJECTIVE:Myasthenia gravis (MG), a neuromuscular disease mediated by anti-acetylcholine receptor (AChR) autoantibodies, is associated with thymic hyperplasia characterized by ectopic germinal centers that contain pathogenic antibody-producing B cells. Our thymic transcriptome study demonstrated increased expression of...
journal_title:Annals of neurology
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doi:10.1002/ana.21628
更新日期:2009-10-01 00:00:00
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journal_title:Annals of neurology
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doi:10.1002/ana.410020603
更新日期:1977-12-01 00:00:00
abstract::To evaluate reports of abnormal levels of free amino acids (AA) in patients with amyotrophic lateral sclerosis (ALS), we studied serum, cerebrospinal fluid, and urine AA in 12 patients with ALS and 12 controls matched for age, sex, and severity of disability. ALS patients had statistically significant elevations in se...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030405
更新日期:1978-04-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340306
更新日期:1993-09-01 00:00:00
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journal_title:Annals of neurology
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doi:10.1002/ana.10321
更新日期:2002-11-01 00:00:00
abstract::The tyrosine kinase receptor RON and its ligand, macrophage stimulating protein (MSP), exert inhibitory effects on systemic innate immunity, but their CNS expression and impact on human neuroinflammatory diseases are unknown were RON and MSP present in human brain perivascular macrophages and microglia, but RON mRNA a...
journal_title:Annals of neurology
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journal_title:Annals of neurology
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doi:10.1002/ana.410120306
更新日期:1982-09-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410210118
更新日期:1987-01-01 00:00:00
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journal_title:Annals of neurology
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更新日期:1997-08-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410130106
更新日期:1983-01-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21289
更新日期:2007-10-01 00:00:00
abstract::A 53-year-old man was diagnosed 8 years earlier with globoid cell leukodystrophy (GLD, Krabbe disease) by his severe deficiency of galactocerebrosidase (GALC) activity. He was found to have eight nucleotide changes on the two copies of his GALC gene, including two in the leader sequence, four considered polymorphisms,...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400119
更新日期:1996-07-01 00:00:00
abstract::Benign familial neonatal convulsions (BFNC) is a rare dominantly inherited epileptic syndrome characterized by frequent brief seizures within the first days of life. The disease is caused by mutations in one of two recently identified voltage-gated potassium channel genes, KCNQ2 or KCNQ3. Here, we describe a four-gene...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199909)46:3<305::aid-ana5>3.0.co
更新日期:1999-09-01 00:00:00
abstract::We describe a young child with tuberous sclerosis and cardiac rhabdomyoma who developed reversible heart block after being placed on carbamazepine treatment for seizures. Patients of any age with known or suspected intrinsic cardiac disease should be monitored for conduction disturbance if they are treated with carbam...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340417
更新日期:1993-10-01 00:00:00
abstract::Imaging of cerebrovascular beta-amyloid (cerebral amyloid angiopathy) is complicated by the nearly universal overlap of this pathology with Alzheimer's pathology. We performed positron emission tomographic imaging with Pittsburgh Compound B on 42-year-old man with early manifestations of Iowa-type hereditary cerebral ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21528
更新日期:2008-11-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150214
更新日期:1984-02-01 00:00:00
abstract::Passive joint position sense was tested in 10 subjects after unilateral total hip replacement surgery (which included capsulectomy). Varied initial limb position, amplitude, and velocity of movement were used. The unoperated side was used as a control. Statistically barely significant errors (p less than 0.025) on the...
journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:1983-06-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150722
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230407
更新日期:1988-04-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380618
更新日期:1995-12-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410130118
更新日期:1983-01-01 00:00:00
abstract:OBJECTIVE:Small-fiber sensory and autonomic symptoms are early presentations of familial amyloid polyneuropathy (FAP) with transthyretin (TTR) mutations. This study aimed to explore the potential of skin nerve pathologies as early and disease-progression biomarkers and their relationship with skin amyloid deposits. ME...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25433
更新日期:2019-04-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199903)45:3<353::aid-ana11>3.0.c
更新日期:1999-03-01 00:00:00
abstract::We studied rhesus monkeys with hemiparkinsonism or bilateral parkinsonism produced by unilateral or bilateral intracarotid administration of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Using a standardized clinical rating scale, 4 hemiparkinsonian monkeys showed a 13 to 56% (mean, 36%) spontaneous improvement during...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290618
更新日期:1991-06-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
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更新日期:2015-08-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25982
更新日期:2020-12-03 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00