Abstract:
:Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy. Using single-strand conformational polymorphism analysis and direct sequencing, a mutation within exon 3 of the gene encoding proteolipid protein (Gly73Arg substitution) was previously detected in both brothers and their mother, establishing the diagnosis of Pelizaeus-Merzbacher disease. Despite reported sparing of the peripheral nervous system in Pelizaeus-Merzbacher disease, we suggest that proteolipid protein gene products may influence the development of anterior horn cells or peripheral nervous system myelin and that some individuals affected with this disease may present with clinical and electromyographic features suggestive of neonatal spinal muscular atrophy.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Kaye EM,Doll RF,Natowicz MR,Smith FIdoi
10.1002/ana.410360618subject
Has Abstractpub_date
1994-12-01 00:00:00pages
916-9issue
6eissn
0364-5134issn
1531-8249journal_volume
36pub_type
杂志文章abstract::We used spin-echo magnetic resonance imaging and proton magnetic resonance spectroscopic imaging in 8 patients with probable Alzheimer's disease and in 10 age-matched elderly control subjects to assess the effects of Alzheimer's disease on the brain. On magnetic resonance images the patients showed significant ventric...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360110
更新日期:1994-07-01 00:00:00
abstract:OBJECTIVE:Antiepileptic drugs (AEDs) are important for the treatment of epilepsy, psychiatric diseases, and pain syndromes. Small studies have suggested that AED treatment reduces serum levels of folate and vitamin B12. METHODS:This prospective monocenter study aimed at testing the hypothesis that AED treatment is ass...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22229
更新日期:2011-02-01 00:00:00
abstract::Four infants had bilateral hippocampal sclerosis by magnetic resonance scans, including oblique coronal fast spin echo images of the temporal lobes; [18F]fluorodeoxyglucose-positron emission tomographic scans, done in 2 infants, showed isolated bilateral anterior temporal lobe hypometabolism. All had epilepsy with epi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420105
更新日期:1997-07-01 00:00:00
abstract::This study assessed whether or not levodopa induces dyskinesias in normal (ie, unlesioned) squirrel monkeys. All six animals treated twice daily with levodopa (15 mg/kg with carbidopa by oral gavage) for two weeks developed choreoathetoid dyskinesias, whereas none of the vehicle-treated animals displayed any abnormal ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1099
更新日期:2001-08-01 00:00:00
abstract::Parkinsonism occurs in approximately 35 to 40% of patients with Alzheimer's disease (AD) even with little or no neuronal degeneration in the substantia nigra, which in idiopathic Parkinson's disease (PD) results in the severe loss of striatal dopamine transporter sites. It is not known if there is a loss of striatal d...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370306
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVE:A workgroup commissioned by the Alzheimer's Association (AA) and the National Institute on Aging (NIA) recently published research criteria for preclinical Alzheimer disease (AD). We performed a preliminary assessment of these guidelines. METHODS:We employed Pittsburgh compound B positron emission tomography...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22628
更新日期:2012-06-01 00:00:00
abstract::Charcot-Marie-Tooth (CMT) neuropathies are inherited neuromuscular disorders caused by a length-dependent neurodegeneration of peripheral nerves. More than 900 mutations in 60 different genes are causative of the neuropathy. Despite significant progress in therapeutic strategies, the disease remains incurable. The inc...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.23987
更新日期:2013-09-01 00:00:00
abstract::Progressive multifocal leukoencephalopathy is the most common clinical presentation of JC virus (JCV)-associated central nervous system (CNS) disease and has emerged as a major safety concern in multiple sclerosis patients treated with the monoclonal antibody natalizumab. Here we report clinical, radiological, and his...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23973
更新日期:2013-10-01 00:00:00
abstract:OBJECTIVE:Migraine is among the most common and debilitating neurological conditions. Familial hemiplegic migraine type 1 (FHM1), a monogenic migraine subtype, is caused by gain-of-function of voltage-gated CaV 2.1 calcium channels. FHM1 mice carry human pathogenic mutations in the α1A subunit of CaV 2.1 channels and a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24449
更新日期:2015-08-01 00:00:00
abstract::A case-control study was performed to determine the possible roles of various environmental factors, prior illnesses, drug use, and personal habits in the development of Alzheimer's disease. Such information was collected from 40 patients with onset of dementia prior to age 70 and from 80 community control subjects ma...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150406
更新日期:1984-04-01 00:00:00
abstract:OBJECTIVE:Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24594
更新日期:2016-03-01 00:00:00
abstract::Temporal lobe seizures are frequently associated with a characteristic pattern of hippocampal pathology (hippocampal sclerosis), as well as pathology in other temporal lobe structures. Despite more than a century of study, the relationship between pathology and epileptogenesis remains unclear. Endfolium sclerosis, whi...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410350604
更新日期:1994-06-01 00:00:00
abstract::Existing and emerging viral central nervous system (CNS) infections are major sources of human morbidity and mortality. Treatments of proven efficacy are currently limited predominantly to herpesviruses and human immunodeficiency virus (HIV). Development of new therapies has been hampered by the lack of appropriate an...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.23988
更新日期:2013-09-01 00:00:00
abstract::A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X)....
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10404
更新日期:2002-12-01 00:00:00
abstract::Three patients with inferior branch palsies of the oculomotor nerve are described. Two were under 10 years of age and the third was 30 years old at the onset. All 3 presented with painless diplopia. The onset was sudden in 2 patients and progressive in the third. The palsy cleared within a short time in the 2 patients...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020414
更新日期:1977-10-01 00:00:00
abstract::The nosological status of multifocal motor neuropathy remains controversial. The clinical and electrodiagnostic hallmarks suggest selective motor fiber involvement. In this study, we asked to what extent sensory nerves might be involved pathologically in multifocal motor neuropathy. Examination of sensory nerve biopsy...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410390308
更新日期:1996-03-01 00:00:00
abstract::Cerebral blood flow velocity (CBF-V) measured by transcranial doppler was assessed in 628 elderly individuals who had cerebral magnetic resonance imaging performed as part of a population-based study on vascular aging. Cerebral white matter hyperintensities (WMHs) were associated with low CBF-V, such as the adjusted o...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-03-01 00:00:00
abstract::Although genome-wide association studies (GWAS) have proven remarkably effective at identifying reliably associated genetic variants, the biology underlying these discoveries is rarely immediately apparent and in most cases seems bound to require extensive fine mapping and functional analysis before it is revealed. In...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.23613
更新日期:2012-10-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a lethal degenerative disorder of motoneurons, which may occur concurrently with frontotemporal dementia. Genetic analyses of the ∼10% of ALS cases that are dominantly inherited provide insight into ALS pathobiology. Two broad themes are evident. One, prompted by investigations o...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.24012
更新日期:2013-09-01 00:00:00
abstract:OBJECTIVE:Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual death. We evaluated corneal confocal microscopy (CCM) quantification of corneal ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25355
更新日期:2018-12-01 00:00:00
abstract::Recently, variant mRNA transcripts for the astroglial glutamate transporter EAAT2 have been detected in brain tissues of 60% of patients with sporadic amyotrophic lateral sclerosis (SALS). We have tested the hypothesis that the gene for EAAT2 may be defective in some ALS cases. In 16 familial ALS (FALS) pedigrees with...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410430514
更新日期:1998-05-01 00:00:00
abstract::We studied the in vitro electrical activity of rat neostriatal neurons following chronic neuroleptic treatment. In haloperidol-treated rats, unlike naive animals, activation of neostriatal D2 dopamine receptors induced a potent presynaptic inhibition of glutamate-mediated excitatory synaptic potentials. Haloperidol tr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310404
更新日期:1992-04-01 00:00:00
abstract::The fate of neurofilament (NF) proteins was examined in sections of nerves from rats that survived for 3 to 90 days following nerve transection, using anti-NF monoclonal antibodies and immunohistochemical techniques. The same methods were also applied to twenty-three human nerve biopsy specimens. Granular debris with ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160312
更新日期:1984-09-01 00:00:00
abstract::There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffini...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-05-01 00:00:00
abstract:OBJECTIVE:To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism. METHODS:We analyzed patients from five separate kindreds and characterized their periph...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20777
更新日期:2006-02-01 00:00:00
abstract::We describe a kindred with 7 confirmed and 2 probable cases of subacute dementia accompanied by myoclonus. The inheritance pattern is consistent with autosomal dominance and shows anticipation. The pathological changes involve marked gliosis with neuronal loss of the dorsomedial and midline thalamic nuclei, with lesse...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200209
更新日期:1986-08-01 00:00:00
abstract::To this day, the cause of multiple system atrophy (MSA) remains stubbornly enigmatic. A growing body of observations regarding the clinical, morphological, and biochemical phenotypes of MSA has been published, but the interested student is still left without a clue as to its underlying cause. MSA has long been conside...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21465
更新日期:2008-09-01 00:00:00
abstract:OBJECTIVE:To develop RNA splicing biomarkers of disease severity and therapeutic response in myotonic dystrophy type 1 (DM1) and type 2 (DM2). METHODS:In a discovery cohort, we used microarrays to perform global analysis of alternative splicing in DM1 and DM2. The newly identified splicing changes were combined with p...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23992
更新日期:2013-12-01 00:00:00
abstract::A 40-year-old man with relapsing-remitting multiple sclerosis (MS) developed primary central nervous system lymphoma (PCNSL) after having received 21 doses of natalizumab monotherapy. PCNSL is a disease of the elderly, with the majority of patients being diagnosed in the 7th to 8th decade of life. Immunodeficiency, ia...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21782
更新日期:2009-09-01 00:00:00
abstract::Localized water-suppressed 1H magnetic resonance spectroscopy was performed in an 11-month-old infant with Leigh syndrome. Spectra obtained from the basal ganglia, occipital cortex, and brainstem showed elevations in lactate, which were most pronounced in regions where abnormalities were seen with routine T2-weighted ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290219
更新日期:1991-02-01 00:00:00