Abstract:
OBJECTIVE:There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. METHODS:We assessed a cohort of participants at risk with <36 CAG repeats of the huntingtin (HTT) gene. Outcome measures were the Unified Huntington's Disease Rating Scale (UHDRS) motor, cognitive, and behavior domains, Total Functional Capacity (TFC), and quality of life (Short Form-36 [SF-36]). This cohort was subdivided into IA carriers (27-35 CAG) and controls (<27 CAG) and younger vs older participants. IA carriers and controls were compared for sociodemographic, environmental, and outcome measures. We used regression analysis to estimate the association of age and CAG repeats on the UHDRS scores. RESULTS:Of 12,190 participants, 657 (5.38%) with <36 CAG repeats were identified: 76 IA carriers (11.56%) and 581 controls (88.44%). After correcting for multiple comparisons, at baseline, we found no significant differences between IA carriers and controls for total UHDRS motor, SF-36, behavioral, cognitive, or TFC scores. However, older participants with IAs had higher chorea scores compared to controls (p = 0.001). Linear regression analysis showed that aging was the most contributing factor to increased UHDRS motor scores (p = 0.002). On the other hand, 1-year follow-up data analysis showed IA carriers had greater cognitive decline compared to controls (p = 0.002). CONCLUSIONS:Although aging worsened the UHDRS scores independently of the genetic status, IAs might confer a late-onset abnormal motor and cognitive phenotype. These results might have important implications for genetic counseling. CLINICALTRIALSGOV IDENTIFIER:NCT01590589.
journal_name
Neurologyjournal_title
Neurologyauthors
Cubo E,Ramos-Arroyo MA,Martinez-Horta S,Martínez-Descalls A,Calvo S,Gil-Polo C,European HD Network.doi
10.1212/WNL.0000000000002944subject
Has Abstractpub_date
2016-08-09 00:00:00pages
571-8issue
6eissn
0028-3878issn
1526-632Xpii
WNL.0000000000002944journal_volume
87pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract::Lymphocytic meningoradiculitis (Bannwarth's syndrome) is a radicular neuralgia associated with a chronic lymphocytic pleocytosis in cerebrospinal fluid and frequently with unilateral or bilateral peripheral facial weakness. Most reported cases have occurred during the summer among adults living in central Europe. Lymp...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.33.11.1476
更新日期:1983-11-01 00:00:00
abstract::Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor mi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.48.5.1238
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND:Bee sting therapy is increasingly used to treat patients with multiple sclerosis (MS) in the belief that it can stabilize or ameliorate the disease. However, there are no clinical studies to justify its use. METHODS:In a randomized, crossover study, we assigned 26 patients with relapsing-remitting or relaps...
journal_title:Neurology
pub_type: 杂志文章,随机对照试验
doi:10.1212/01.wnl.0000184442.02551.4b
更新日期:2005-12-13 00:00:00
abstract::In this double-blind, placebo-controlled trial, we investigated the effect of the catechol-O-methyltransferase inhibitor tolcapone 100 or 200 mg three times daily on activities of daily living and motor function in 298 patients with parkinsonism receiving levodopa but without motor fluctuations. At 6 months, both dosa...
journal_title:Neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1212/wnl.49.3.665
更新日期:1997-09-01 00:00:00
abstract:OBJECTIVE:To investigate the feasibility, safety, and efficacy of a ketogenic diet (KD) for superrefractory status epilepticus (SRSE) in adults. METHODS:We performed a prospective multicenter study of patients 18 to 80 years of age with SRSE treated with a KD treatment algorithm. The primary outcome measure was signif...
journal_title:Neurology
pub_type: 杂志文章,多中心研究
doi:10.1212/WNL.0000000000003690
更新日期:2017-03-07 00:00:00
abstract:OBJECTIVE:To report eight cases of sensory Guillain-Barré syndrome (GBS). BACKGROUND:The concept of sensory equivalent to ascending paralysis of GBS was raised in 1958, and the diagnostic criteria for a sensory loss and areflexia variant of GBS were proposed in 1981. However, clinical cases meeting these criteria have...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/wnl.56.1.82
更新日期:2001-01-09 00:00:00
abstract::Clinical trials have demonstrated that risk of cardiovascular events may be reduced in patients with stroke, using blood pressure (BP) reduction and statin therapy, independently of the presence of specific risk factors. These results suggest an alternative approach to secondary stroke prevention, focused more on glob...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/01.wnl.0000171745.13592.cb
更新日期:2005-07-12 00:00:00
abstract::In spinal cords from seven amyotrophic lateral sclerosis (ALS) patients and four controls, we found no difference in thyrotropin-releasing hormone (TRH) concentration relative to protein content, but there was a reduction per tissue wet weight in ALS. Immunohistochemical localization of TRH in ALS cord was unaltered. ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.36.9.1218
更新日期:1986-09-01 00:00:00
abstract::PET-demonstrated decreases in [11C]flumazenil binding occur in anterior mesial temporal structures on the side of epileptogenesis in unilateral mesial temporal lobe epilepsy. We performed quantitative autoradiography on anterior mesial and lateral temporal specimens from 11 subjects with unilateral mesial temporal lob...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.45.5.934
更新日期:1995-05-01 00:00:00
abstract::Using the centralized diagnostic data resource for the population of Rochester, Minnesota, we determined the prevalence of medically diagnosed dementia for this community. There were 289 individuals with dementia who were residing in Rochester on January 1, 1975: 208 women and 81 men. The overall age- and sex-adjusted...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.39.6.773
更新日期:1989-06-01 00:00:00
abstract:BACKGROUND/OBJECTIVE:Apoptosis, or programmed cell death, is an evolutionary conserved mechanism essential for morphogenesis and tissue homeostasis, but it plays an important role also in pathologic conditions, including neurologic disorders. Its execution pathway is critically regulated at the mitochondrial level. Evi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.56.8.1070
更新日期:2001-04-24 00:00:00
abstract::Migraine does not increase the risk for complications of pregnancy for the mother or for the fetus: the incidences of toxemia, miscarriages, abnormal labour, congenital anomalies, and stillbirths are comparable to those of the general population. Several retrospective studies have shown a tendency for migraine to impr...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:
更新日期:1999-01-01 00:00:00
abstract:OBJECTIVE:We aimed to compare survival in the multiple sclerosis (MS) population with a matched cohort from the general population, and to evaluate the association of comorbidity with survival in both populations. METHODS:Using population-based administrative data, we identified 5,797 persons with MS and 28,807 contro...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000001718
更新日期:2015-07-21 00:00:00
abstract:BACKGROUND:Timely recruiting and retaining participants into Alzheimer disease (AD) clinical trials is a challenge. We used conjoint analysis to identify how alterations in attributes of clinical trial design improve willingness to participate: risk, home visits, car service, or increased chance of receiving interventi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000336652.05779.ea
更新日期:2008-12-02 00:00:00
abstract::Seronegative (SN) patients with myasthenia gravis (MG) have clinical and electrophysiologic features similar to those of seropositive (SP) patients, and they respond to the same therapeutic measures. However, because SN patients lack detectable (by standard radioimmunoassays) serum antibodies to acetylcholine receptor...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.48.6.1638
更新日期:1997-06-01 00:00:00
abstract:OBJECTIVE:To empirically validate the expanded concept of mild cognitive impairment (MCI), which differentiates between four clinical subtypes-amnestic MCI-single domain, amnestic MCI-multiple domains, nonamnestic MCI-single domain, and nonamnestic MCI-multiple domains-and to examine the prevalence, course, and outcome...
journal_title:Neurology
pub_type: 杂志文章,随机对照试验
doi:10.1212/01.wnl.0000249117.23318.e1
更新日期:2006-12-26 00:00:00
abstract:OBJECTIVE:To determine, in a cross-sectional evaluation of nondemented individuals, if age-related memory decline is influenced by apolipoprotein E (apoE) genotype. BACKGROUND:The apoE-4 allele is an important risk factor for AD. PET in cognitively normal apoE-4 carriers (mean age, 56 years) shows reduced cerebral met...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.53.1.201
更新日期:1999-07-13 00:00:00
abstract:OBJECTIVE:To investigate the pathogenesis of proximal diabetic neuropathy (PDN) with nerve and muscle biopsies. BACKGROUND:Recent evidence suggests that nerve ischemia secondary to immune-mediated vasculopathy rather than diabetic microangiopathy may be responsible for PDN. METHOD:- Fifteen patients with PDN and two ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.55.1.83
更新日期:2000-07-12 00:00:00
abstract:OBJECTIVE:To characterize the prevalence and prognostic significance of major driver molecular alterations in adult midline diffuse gliomas (MLG). METHODS:Adults with histologically proven MLG diagnosed between 1996 and 2017 were identified from our tumor bank, systematically reviewed, and reclassified according to WH...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000005658
更新日期:2018-06-05 00:00:00
abstract::Generalized epilepsy with febrile seizures plus (GEFS+) is a clinically and genetically heterogeneous syndrome with childhood onset, characterized by febrile seizures (FS) and a variety of afebrile epileptic seizure types. The authors performed a mutational analysis of SCN1B on 74 unrelated probands with GEFS+, FS, or...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000080362.55784.1c
更新日期:2003-09-23 00:00:00
abstract:OBJECTIVE:To better understand the epileptogenesis of symptomatic generalized epilepsy in patients with hypothalamic hamartoma and intractable epilepsy, many of whom experience remission of generalized seizures and slow spike-wave discharges following surgery. METHODS:The authors documented the evolution of symptomati...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000049457.05670.7d
更新日期:2003-03-11 00:00:00
abstract:BACKGROUND:Pompe disease (acid maltase deficiency, glycogen storage disease type II; OMIM 232300) is an autosomal recessive lysosomal storage disorder characterized by acid alpha-glucosidase deficiency due to mutations in the GAA gene. Progressive skeletal muscle weakness affects motor and respiratory functions and is ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000252798.25690.76
更新日期:2007-01-09 00:00:00
abstract:OBJECTIVE:Precise genetic analyses were conducted with ring finger protein 213 (RNF213) in relation to a particular clinical phenotype in Chinese patients with moyamoya disease (MMD) to determine whether heterozygosity is responsible for the early-onset and severe form of this disease. METHODS:A case-control study for...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000008901
更新日期:2020-02-18 00:00:00
abstract::This study investigates a canine model of experimental brain tumor. Particularly addressed was the usefulness of gadolinium contrast-enhanced MRI for differentiating brain tumor tissue from cerebral edema. Cultured canine glioma cells were injected into the left hemispheres of six adult mongrel dogs. All dogs develope...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.37.7.1235
更新日期:1987-07-01 00:00:00
abstract::A decade of empirical work in brain imaging, genomics, and other areas of research has yielded new knowledge about the frequency of incidental findings, investigator responsibility, and risks and benefits of disclosure. Straightforward guidance for handling such findings of possible clinical significance, however, has...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/01.wnl.0000280469.17461.94
更新日期:2008-01-29 00:00:00
abstract::Three patients presented with unilateral progressive optic neuropathy. None of these patients had signs of symptoms referable to the chiasm or eye, thus confining their decline in vision to the optic nerve. Clinical and neuroradiographic evidence suggested a meningioma involving the optic nerve at the orbital-canalicu...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.32.6.597
更新日期:1982-06-01 00:00:00
abstract::A patient with thymoma-associated neuromyotonia and voltage-gated potassium channel (Kv1.2 and Kv1.6) antibodies by immunoprecipitation and rat brain immunolabeling was treated successfully with immunoadsorption and cyclophosphamide. Curiously, glutamic acid decarboxylase antibodies, absent at onset, appeared later. S...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.WNL.0000156945.39471.2C
更新日期:2005-04-12 00:00:00
abstract:OBJECTIVE:The purpose of this study was to assess the prevalence of and to identify epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism spectrum disorders (ASD) in a cohort of patients with tuberous sclerosis complex (TSC). METHODS:A total of 103 patients with TSC were evaluated for A...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3182104347
更新日期:2011-03-15 00:00:00
abstract:OBJECTIVE:To investigate the prevalence of headaches in a Chinese elderly population. BACKGROUND:There are few headache surveys in the elderly. Previous studies have shown a low headache prevalence in Chinese. METHODS: TARGET POPULATION:eligible registered residents > or = 65 years old (N = 2,003) in two townships o...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.49.1.195
更新日期:1997-07-01 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