Abstract:
OBJECTIVE:To detect and quantify lesions of the small-caliber sural nerve (SN) in symptomatic and asymptomatic transthyretin familial amyloid polyneuropathy (TTR-FAP) by high-resolution magnetic resonance neurography (MRN) in correlation with electrophysiologic and histopathologic findings. METHODS:Twenty-five patients with TTR-FAP, 10 asymptomatic carriers of the mutated transthyretin gene (mutTTR), and 35 age- and sex-matched healthy controls were prospectively included in this cross-sectional case-control study. All participants underwent 3T MRN with high-structural resolution (fat-saturated, T2-weighted, and double-echo sequences). Total imaging time was ≈45 minutes per patient. Manual SN segmentation was performed from its origin at the sciatic nerve bifurcation to the lower leg with subsequent evaluation of quantitative microstructural and morphometric parameters. Additional time needed for postprocessing was ≈1.5 hours per participant. Detailed neurologic and electrophysiologic examinations were conducted in the TTR group. RESULTS:T2 signal and proton spin density (ρ) reliably differentiated between TTR-FAP (198.0 ± 13.3, 429.6 ± 15.25), mutTTR carriers (137.0 ± 16.9, p = 0.0009; 354.7 ± 21.64, p = 0.0029), and healthy controls (90.0 ± 3.4, 258.2 ± 9.10; p < 0.0001). Marked differences between mutTTR carriers and controls were found for T2 signal (p = 0.0065) and ρ (p < 0.0001). T2 relaxation time was higher in patients with TTR-FAP only (p = 0.015 vs mutTTR carriers, p = 0.0432 vs controls). SN caliber was higher in patients with TTR-FAP vs controls and in mutTTR carriers vs controls (p < 0.0001). Amyloid deposits were histopathologically detectable in 10 of 14 SN specimens. CONCLUSIONS:SN injury in TTR-FAP is detectable and quantifiable in vivo by MRN even in asymptomatic mutTTR carriers. Differences in SN T2 signal between controls and asymptomatic mutTTR carriers are derived mainly from an increase of ρ, which overcomes typical limitations of established diagnostic methods as a highly sensitive imaging biomarker for early detection of peripheral nerve lesions. CLASSIFICATION OF EVIDENCE:This study provides Class III evidence that MRN accurately identifies asymptomatic mutTTR carriers.
journal_name
Neurologyjournal_title
Neurologyauthors
Kollmer J,Sahm F,Hegenbart U,Purrucker JC,Kimmich C,Schönland SO,Hund E,Heiland S,Hayes JM,Kristen AV,Röcken C,Pham M,Bendszus M,Weiler Mdoi
10.1212/WNL.0000000000004178subject
Has Abstractpub_date
2017-08-01 00:00:00pages
475-484issue
5eissn
0028-3878issn
1526-632Xpii
WNL.0000000000004178journal_volume
89pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract:OBJECTIVE:To examine nonmotor outcomes and correlates of quality of life (QoL) 3 and 12 months after unilateral focused ultrasound thalamotomy in tremor-dominant Parkinson disease (TDPD). METHODS:Twenty-seven patients with TDPD in a double-blind, sham-controlled, randomized clinical trial underwent comprehensive neuro...
journal_title:Neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1212/WNL.0000000000006279
更新日期:2018-10-02 00:00:00
abstract::In the first half of the 19th century, European physicians-including Marshall Hall, Moritz Romberg, and Bernardus Brach-described loss of postural control in darkness of patients with severely compromised proprioception. Romberg and Brach emphasized the relationship between this sign and tabes dorsalis. Later, other n...
journal_title:Neurology
pub_type: 历史文章,杂志文章
doi:10.1212/wnl.55.8.1201
更新日期:2000-10-24 00:00:00
abstract::Relating the onset of clinical attacks as recorded on a videotape to surface and depth electrographic events improves our ability to define the local or diffuse origin of seizures. In two patients with complex partial seizures, all 14 attacks appeared 3 to 6 seconds after focal discharges began in the amygdala or hipp...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.29.4.473
更新日期:1979-04-01 00:00:00
abstract:OBJECTIVE:To examine the relationship between the degree of handedness and hemispheric language dominance in patients with epilepsy. METHODS:The authors examined the relationship between degree of handedness and hemispheric language dominance in 174 epilepsy surgery candidates using the intracarotid amobarbital proced...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000219623.28769.74
更新日期:2006-06-27 00:00:00
abstract:BACKGROUND:Pharmacologic interventions (e.g., beta blockers) and thalamic lesions have failed to alter the pathophysiology of essential tremor (ET) beyond a reduction in tremor amplitude. Deep brain stimulation (DBS) of the ventral intermediate (VIM) nucleus of the thalamus successfully reduces tremor rating scores. It...
journal_title:Neurology
pub_type: 临床试验,杂志文章
doi:10.1212/01.wnl.0000086371.78447.d2
更新日期:2003-10-14 00:00:00
abstract:OBJECTIVE:To characterize the present state of brain death (BD) determination in actual practice relative to contemporary American Academy of Neurology (AAN) guidelines. METHODS:We reviewed the charts of all adult (16 years and older) BD organ donors during 2011 from 68 heterogeneous hospitals in the Midwest United St...
journal_title:Neurology
pub_type: 杂志文章,多中心研究
doi:10.1212/01.wnl.0000436938.70528.4a
更新日期:2013-12-03 00:00:00
abstract:OBJECTIVE:Glatiramer acetate (formerly known as copolymer 1) is the major noninterferon immunomodulatory agent used in the treatment of relapsing-remitting multiple sclerosis. Its mechanism of action over the past 40 years has evolved with our understanding of the immune response. METHODS:We review the various mechani...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/WNL.0b013e3181c97e39
更新日期:2010-01-05 00:00:00
abstract::Among 50 patients with phenytoin intoxication, 14 had seizures during the episode. Seizures in 9 of these 14 patients probably resulted from poor seizure control despite high phenytoin levels, but in 5 cases, attacks were attributed to phenytoin toxicity. The only factor that seemed to correlate with seizures was a se...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.35.12.1769
更新日期:1985-12-01 00:00:00
abstract:OBJECTIVES:To describe the clinical, CSF, and radiologic findings and long-term follow-up in a cohort of patients with acute disseminated encephalomyelitis (ADEM), and to determine possible prognostic factors for progression to MS. METHODS:Forty adults (28 women, mean age 33.5 years) diagnosed with ADEM were analyzed....
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.56.10.1313
更新日期:2001-05-22 00:00:00
abstract::A 14-year-old boy survived for 7 years after the initial diagnosis and treatment of acute lymphocytic leukemia. Neurologic deterioration occured repeatedly throughout his complicated clinical course but it was most severe and only partially reversible following orally administered pyrimethamine. The neuropathologic le...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.27.7.609
更新日期:1977-07-01 00:00:00
abstract:BACKGROUND:X-linked adrenoleukodystrophy (X-ALD) has variants with widely different outcomes, hampering clinical counseling and evaluation of therapies. OBJECTIVE:To evaluate the degree to which MRI patterns can predict lesion progression. METHODS:Two hundred six boys and men with cerebral X-ALD (median age 12.2 year...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000079050.91337.83
更新日期:2003-08-12 00:00:00
abstract:OBJECTIVE:To clinically characterize the temporal relationship between dyskinesia and the antiparkinsonian response when dyskinesia first emerges during long-term levodopa therapy and to determine if it is consistent with the hypothesized mechanism by which dyskinesia develops. METHODS:Dyskinesia and the antiparkinson...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181d90050
更新日期:2010-04-13 00:00:00
abstract::We examined the performance of patients with probable Alzheimer's disease (AD) who participated in the placebo arm of a 12-week clinical trial. Assessments occurred at baseline and at 4, 6, 10, and 12 weeks after starting study medication. Patients received the Alzheimer's Disease Assessment Scale--Cognitive on all fi...
journal_title:Neurology
pub_type: 临床试验,杂志文章,多中心研究
doi:10.1212/wnl.44.2.260
更新日期:1994-02-01 00:00:00
abstract:OBJECTIVE:To examine associations between aggregate genetic risk and Alzheimer disease (AD) markers in stages preceding the clinical symptoms of dementia using data from 2 large observational cohort studies. METHODS:We computed polygenic risk scores (PGRS) using summary statistics from the International Genomics of Al...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000002922
更新日期:2016-08-02 00:00:00
abstract::Thirty-eight survivors from among 117 patients hospitalized after out-of-hospital cardiac arrest were evaluated approximately 3 1/2 years later. Twenty patients were living; 18 had died. Fifty-three percent had resumed independent social activities, but only 32% had returned to work. Eight of 14 patients tested were n...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.30.12.1298
更新日期:1980-12-01 00:00:00
abstract:OBJECTIVE:To identify the metabolic signature of the various levels of cognitive deficits in amyotrophic lateral sclerosis (ALS) using 18F-2-fluoro-2-deoxy-d-glucose-PET (18F-FDG-PET). METHODS:A total of 170 ALS cases consecutively enrolled at the ALS Center of Turin underwent brain 18F-FDG-PET and were classified as ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000002242
更新日期:2016-01-05 00:00:00
abstract:OBJECTIVE:SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS:We used high-throughput sequence analysis of the SCN8A gene in 683 pat...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000001211
更新日期:2015-02-03 00:00:00
abstract::We present a clinical and morphological study concerning a kindred with slowly progressive X-linked muscular dystrophy (Becker type). Five males were affected; one died of heart failure at age 16. Severe and early cardiac disorder is unusual in this type of muscular dystrophy, and death at such an early age had not be...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.29.8.1144
更新日期:1979-08-01 00:00:00
abstract::The authors pooled four population-based European studies to determine the risk for institutionalization and death after stroke. Risk for institutionalization was assessed in 13,095 subjects. Survival was calculated for prevalent stroke in 7929 individuals and incident stroke in 8550 individuals. The adjusted risk of ...
journal_title:Neurology
pub_type: 杂志文章,多中心研究
doi:
更新日期:2000-01-01 00:00:00
abstract::While intracranial tuberculomas have become uncommon in industrial nations, 12 patients with signs and symptoms of an intracranial mass lesion were recently found to have tuberculomas. Clinical findings suggestive of tuberculosis were frequently subtle or absent. Five patients did not have extracranial tuberculosis. T...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.28.3.256
更新日期:1978-03-01 00:00:00
abstract::We used single-photon emission computed tomography (SPECT) to study postictal cerebral blood flow (CBF) in 51 patients with temporal lobe epilepsy. There were 78 seizures studied, 77 by early postictal injection of Tc-99m HMPAO (delay from seizure onset = 4.3 +/- 4.5 min) and one by ictal injection. Increased focal te...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.41.7.1096
更新日期:1991-07-01 00:00:00
abstract::We determined the gene frequencies for the alleles of the HLA-linked complement markers C2, properdin factor B (BF), C4A (Rodgers) and C4B (Chido), and the red cell enzyme glyoxalase-I in 38 unrelated patients with senile dementia of the Alzheimer type, 42 patients with idiopathic Parkinson's disease, and 59 unaffecte...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.3.310
更新日期:1984-03-01 00:00:00
abstract::Migraine is associated with stimulus hypersensitivity, increased evoked cortical responses, and abnormal 5-HT levels in peripheral blood. We studied cortical auditory evoked potentials (AEPs) between attacks in 35 patients suffering from migraine without aura (MO, n = 25) or with aura (MA, n = 10) and in 25 healthy vo...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.46.5.1404
更新日期:1996-05-01 00:00:00
abstract::Functional decline for each decade at symptom onset and need for cane, walker, or wheelchair were assessed in 78 biopsy-proved patients with sporadic inclusion body myositis. Patients with disease onset between 40 and 59 years used a walker after 10.2 +/- 5.8 years, whereas those with disease onset between 60 and 79 y...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.55.2.296
更新日期:2000-07-25 00:00:00
abstract::Central nervous system involvement in melioidosis is unusual. We describe a 34-year-old man who developed a Pseudomonas pseudomallei meningitis, manifested as bilateral third-nerve palsies, 13 years after having been in southeast Asia. Diagnosis was established by a fourfold rise in the serum antibody titer for the ba...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.1.105
更新日期:1984-01-01 00:00:00
abstract:OBJECTIVE:To determine the rate of relapse occurrence during pregnancy and postpartum. METHODS:In a cross-sectional study using the national multiple sclerosis (MS) registry, pregnant women with relapsing MS were identified. Data on demographics, clinical characteristics, and disease-modifying therapies (DMTs), includ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000005065
更新日期:2018-03-06 00:00:00
abstract::We examined measures of lead dose that reflect intensity of exposure and cumulative exposure for differential association with neuropsychological functional domains and with neuropsychological performance by age. Eighty active lead smelter workers assessed for verbal memory and visuomotoric skills had a mean (range) a...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.48.3.639
更新日期:1997-03-01 00:00:00
abstract::Sphingosine 1-phosphate receptors (S1PRs) are G protein-coupled receptors expressed by many cell types, including immune and neural cells. These receptors are promising targets for immunomodulatory and possibly neuromodulatory therapies. Fingolimod (FTY720) is a sphingosine analog that, when phosphorylated, becomes a ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e31820d9507
更新日期:2011-02-22 00:00:00
abstract::The pathologic substrate of essential tremor (ET) remains unknown. The authors studied 10 patients with ET and 10 volunteers using a multislice MR spectroscopy imaging sequence. Left and right cerebellar hemisphere NAA/CR and NAA/Cho ratios were significantly smaller in the ET patients than healthy subjects. The autho...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000065885.15875.0d
更新日期:2003-04-22 00:00:00
abstract::Nuclear magnetic resonance (NMR) imaging was superior to CT for imaging the brain lesions of 27 patients with MS. The incidence of abnormal examinations was 78% by NMR and 63% by CT. In cases in which both studies were abnormal, NMR usually demonstrated many more lesions and more extensive involvement than CT. The app...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.36.1.27
更新日期:1986-01-01 00:00:00