Abstract:
:We performed a clinical study and linkage analysis on 278 subjects (66 affected) belonging to eight families with X-linked dominant Charcot-Marie-Tooth (CMT) neuropathy. This form affects 11.8% of CMT patients in Iowa. Motor nerve conduction velocities (MNCVs) were significantly slowed consistent with type 1 CMT. Fifty-six obligate carriers manifested mild distal weakness, localized areflexia, pes cavus, and slowing on MNCVs. Seven X-linked restriction fragment length polymorphisms mapping in the Xp11-q21 region were tested for linkage against CMT. Two-point linkage results showed the highest lod scores with PGK1, DXS159, and DXYS1. Multipoint linkage analysis excluded the CMT gene from being telomeric to either DXS14 or DXYS1, with over 1,000:1 odds. The highest location scores were at PGK1 and 1 cM proximal to DXS159.
journal_name
Neurologyjournal_title
Neurologyauthors
Ionasescu VV,Trofatter J,Haines JL,Ionasescu R,Searby Cdoi
10.1212/wnl.42.4.903subject
Has Abstractpub_date
1992-04-01 00:00:00pages
903-8issue
4eissn
0028-3878issn
1526-632Xjournal_volume
42pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract:OBJECTIVE:To evaluate the presence of prodromal markers of Parkinson disease (PD) in patients with longstanding idiopathic REM sleep behavior disorder (IRBD), a small subgroup of individuals with IRBD with long-term follow-up thought not to be at risk of developing PD. METHODS:Demographic, clinical, and neuroimaging m...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000004121
更新日期:2017-07-18 00:00:00
abstract::Immediately after a patient with myoclonus epilepsy smoked a nicotine-containing cigarette, tetraparesis and hyperreflexia with ankle clonus developed, but disappeared within several minutes. During paresis, the H-reflex size of the soleus muscle increased, EEG showed more slow waves than before smoking, and the cereb...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.2.382
更新日期:1992-02-01 00:00:00
abstract:OBJECTIVE:Unilateral temporoparietal injury may result in an attentional deficit for stimuli presented in contralesional space. Thus, bilateral temporoparietal degeneration associated with Alzheimer disease (AD) might result in a bilateral attentional disturbance. Tests for hemispatial neglect, however, primarily asses...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000276956.65528.d4
更新日期:2007-09-11 00:00:00
abstract::We detected crossed cerebellar as well as uncrossed basal ganglia and thalamic diaschisis in Alzheimer's disease by positron emission tomography (PET) using 18F-fluorodeoxyglucose. We studied a series of 26 consecutive, clinically diagnosed Alzheimer cases, including 6 proven by later autopsy, and compared them with 9...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.39.4.541
更新日期:1989-04-01 00:00:00
abstract:OBJECTIVE:To determine the effect of injections of botulinum toxin on simple motor tics. BACKGROUND:Case series with unblinded assessments have reported improvement in tic frequency and associated urge with botulinum toxin. METHODS:Patients with suitable simple motor tics were randomized to receive botulinum toxin an...
journal_title:Neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1212/wnl.56.5.605
更新日期:2001-03-13 00:00:00
abstract:OBJECTIVES:SCN1A mutations were recently reported in several patients with severe myoclonic epilepsy in infancy (SMEI). The authors analyzed SCN1A mutations in 93 patients with SMEI and made genotype-phenotype correlation to clarify the role of this gene in the etiology of SMEI. METHODS:All patients fulfilled the crit...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000069463.41870.2f
更新日期:2003-06-24 00:00:00
abstract::Duchenne muscular dystrophy manifested in one of girl twins. The twins were monozygous on the basis of red cell and HL antigens and skin graft compatibility. Karyotyping, including banding techniques, showed a normal number of chromosomes and a normal configuration of the X-chromosome in both twins. The twins were ide...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.27.6.537
更新日期:1977-06-01 00:00:00
abstract::This review summarizes evidence, primarily from recent human studies, indirectly supporting a novel hypothesis: that the assessment of healthy individuals' responses to standardized noxious stimuli in a controlled laboratory environment has important implications for the later risk of developing a broad spectrum of ch...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/01.wnl.0000171862.17301.84
更新日期:2005-08-09 00:00:00
abstract::We report longitudinal data on a group of 29 male patients 50 years of age or older who were initially diagnosed as having idiopathic REM sleep behavior disorder (RBD) after extensive polysomnographic and neurologic evaluations. Thirty-eight percent (11/29) were eventually diagnosed as having a parkinsonian disorder (...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.46.2.388
更新日期:1996-02-01 00:00:00
abstract::We studied the effect of deep brain stimulation (DBS) of the ventral intermediate thalamic nucleus on voice symptoms in seven patients with essential tremor. All had undergone DBS for management of hand tremor. Five of the patients had received unilateral implants; two were treated bilaterally. Each reported improveme...
journal_title:Neurology
pub_type: 临床试验,杂志文章
doi:10.1212/wnl.50.3.796
更新日期:1998-03-01 00:00:00
abstract:OBJECTIVE:To generate a national multiple sclerosis (MS) prevalence estimate for the United States by applying a validated algorithm to multiple administrative health claims (AHC) datasets. METHODS:A validated algorithm was applied to private, military, and public AHC datasets to identify adult cases of MS between 200...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000007035
更新日期:2019-03-05 00:00:00
abstract:OBJECTIVE:To assess efficacy and safety of once-daily 8 or 12 mg perampanel, a noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) receptor antagonist, when added to concomitant antiepileptic drugs (AEDs) in the treatment of drug-resistant partial-onset seizures. METHODS:This was a multicenter,...
journal_title:Neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1212/WNL.0b013e3182635735
更新日期:2012-08-07 00:00:00
abstract:OBJECTIVE:To investigate the temporal relationship between inflammation and cerebral atrophy in a longitudinal study of 19 patients with relapsing-remitting multiple sclerosis (RRMS) using serial monthly contrast enhanced MRI examinations and monthly measurements of brain fractional volume (BFV) for an average of 4 (ra...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000197982.78063.06
更新日期:2006-02-28 00:00:00
abstract:OBJECTIVE:Pigmented orthochromatic leukodystrophy (POLD) and hereditary diffuse leukoencephalopathy with axonal spheroids (HDLS) are rare neurodegenerative disorders characterized by cerebral white matter abnormalities, myelin loss, and axonal swellings. The striking overlap of clinical and pathologic features of these...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e31828726a7
更新日期:2013-03-12 00:00:00
abstract::We describe a 34-year-old man from southern Florida with a history of intravenous drug use, dually infected with human immunodeficiency virus type 1 (HIV-1) and human T-lymphotropic virus type II (HTLV-II), who developed a myelopathy clinically indistinguishable from HTLV-I-associated myelopathy/tropical spastic parap...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.41.1.85
更新日期:1991-01-01 00:00:00
abstract::Using (18)F-fluorodopa PET and a constant 0.0062 influx rate in the putamen, dementia with Lewy bodies (n = 7) was distinguished from AD (n = 10) with a sensitivity of 86% and a specificity of 100%. A constant 0.0071 influx rate in the caudate yielded a sensitivity of 71% and a specificity of 100% for distinction of t...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.55.10.1575
更新日期:2000-11-28 00:00:00
abstract:BACKGROUND:Cerebrovascular disease (CVD) may contribute to mild cognitive impairment (MCI). We sought to determine the relation of white matter hyperintensity (WMH) volume and infarcts in brain MRI to MCI in a community-based sample. METHODS:A total of 679 elderly persons without dementia underwent brain MRI. WMH and ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181b1636a
更新日期:2009-08-11 00:00:00
abstract::We conducted a case-control study to assess possible factors associated with Alzheimer's disease (AD) with 70 clinically diagnosed AD patients and 140 age- and sex-matched nondemented neighborhood controls in China. Factors significantly associated with AD cases were family history of dementia in first-degree relative...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.8.1481
更新日期:1992-08-01 00:00:00
abstract:OBJECTIVE:To determine whether blood-based biomarkers can differentiate older veterans with and without traumatic brain injury (TBI) and cognitive impairment (CogI). METHODS:We enrolled 155 veterans from 2 veterans' retirement homes: 90 without TBI and 65 with TBI history. Participants were further separated into CogI...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000010087
更新日期:2020-09-01 00:00:00
abstract::We analyzed EEGs performed over a 6-month period on patients with impaired consciousness following acute hypoxia or anoxia. There were 17 EEGs performed on 14 patients. Nine of the 17 records contained spindle activity. Spindles were present in 6/8 EEGs in stuporous patients, in 3/9 EEGs in comatose patients, in 6/10 ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.44.4.758
更新日期:1994-04-01 00:00:00
abstract::Four men with evidence of hemiatrophy resulting from early-life hemispheral injury developed unilateral hemiparkinsonism on the side of the hemiatrophy. The parkinsonism began in the fourth decade and has remained unilateral for 5 to 35 years. In all four patients, the parkinsonism was slowly progressive, but the clin...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.31.5.625
更新日期:1981-05-01 00:00:00
abstract::When 251 relapsing-remitting patients with multiple sclerosis were randomized to receive daily subcutaneous injections of glatiramer acetate, previously called copolymer 1 (Copaxone; n = 125) or placebo (n = 126) for 24 months, there were no laboratory abnormalities associated with glatiramer acetate treatment and it ...
journal_title:Neurology
pub_type: 临床试验,杂志文章,多中心研究,随机对照试验
doi:10.1212/wnl.50.3.701
更新日期:1998-03-01 00:00:00
abstract::In this study, we examined the topographic involvement of the putaminal projection neurons and their axons in the globus pallidus and substantia nigra, which we visualized by calcineurin immunostaining, in the basal ganglia of patients with striatonigral degeneration (SND). In all cases examined, there was a marked de...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.47.4.1032
更新日期:1996-10-01 00:00:00
abstract:OBJECTIVE:(1)H-MRS studies have shown abnormalities in brain levels of myo-inositol (mI) and N-acetyl aspartate (NAA) in AD, but the relation of these abnormalities with dementia severity was not examined. The authors sought to determine whether altered brain levels of mI and other metabolites occur in mild AD and whet...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.4.626
更新日期:2001-08-28 00:00:00
abstract::In patients with spatial neglect, contralesional reflexive saccades toward suddenly appearing targets show direction-specific deficits. We examined whether these deficits also occur during free exploration of space. Neglect patients' voluntary eye movements showed reduced amplitudes for saccades in all directions but ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.54.2.515
更新日期:2000-01-25 00:00:00
abstract::Ninety-seven chronic alcoholics, both impaired and unimpaired, without clinically evident liver disease, showed significantly more cerebral atrophy on computed tomography than age-matched neurologic controls. Age was the variable most highly correlated with cerebral atrophy measurements, and it accounted for most of t...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.31.4.377
更新日期:1981-04-01 00:00:00
abstract:OBJECTIVE:To determine whether the incidence and clinical features of pediatric multiple sclerosis (MS) and other forms of pediatric acquired demyelinating syndromes (ADS) vary by race/ethnicity in a population-based cohort. METHODS:We used a combination of electronic database searches followed by complete medical rec...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e31822facdd
更新日期:2011-09-20 00:00:00
abstract:BACKGROUND:Co-occurrence of Parkinson disease (PD) and melanoma has been reported in numerous studies. If this was due to common genetic mechanisms, a positive family history of melanoma would be associated with an excessive PD risk, independent of environmental risk factors for PD. METHODS:We prospectively examined a...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181bd13a1
更新日期:2009-10-20 00:00:00
abstract::We performed 15 dynamic gadolinium-DTPA (Gd-DTPA)-enhanced MRI studies in 8 patients with relapsing and remitting multiple sclerosis; 7 were follow-up studies. We measured the time course of enhancement in 102 enhancing lesions for up to 384 minutes, with rest breaks. Immediate postcontrast MRIs demonstrated many diff...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.40.2.229
更新日期:1990-02-01 00:00:00
abstract::Cerebral necrosis following stroke exposes brain antigens to the immune system, potentially initiating an antibody response. The authors measured levels of antibodies to specific neuronal antigens, neurofilaments (NF), and a ubiquitous antigen, cardiolipin (CL), in 45 patients following an acute first-ever stroke, wit...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.56.4.529
更新日期:2001-02-27 00:00:00