Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.

Abstract:

OBJECTIVE:To characterize a large family with X-linked Charcot-Marie-Tooth (CMT) neuropathy without mutations in the gap junction protein B1 (GJB1) gene, which has an unusual phenotype that is different in some aspects from classic CMTX1. METHODS:We tested CMT families consistent with X-linked inheritance for GJB1 mutations. We compared the largest family (CMT623) without GJB1 mutation and with linkage excluding the CMTX1 locus to CMTX1 and normal individuals. RESULTS:Only 51% of probable X-linked CMT families had mutations in GJB1. Family CMT623 shows linkage to Xq26.3-q27.1 (lod score z = 6.58), a region within the previously identified locus for CMTX3, Xq26-q28. Unlike CMTX1, affected males in family CMT623 report pain and paraesthesia before the onset of sensory loss, and women are usually asymptomatic. As in CMTX1, affected males have widely ranging intermediate motor conduction velocities. The coding regions of 14 positional candidate genes within the narrowed CMTX3 locus have been excluded for a pathogenic role in the disease. CONCLUSION:This study is the first to confirm the CMTX3 locus and to refine the genetic interval to a 5.7-Mb region flanked by the markers DXS1041 and DXS8106. GJB1 mutation-negative forms of X-linked CMT, such as CMTX3, may account for a significant proportion of X-linked CMT.

journal_name

Neurology

journal_title

Neurology

authors

Huttner IG,Kennerson ML,Reddel SW,Radovanovic D,Nicholson GA

doi

10.1212/01.wnl.0000247271.40782.b7

subject

Has Abstract

pub_date

2006-12-12 00:00:00

pages

2016-21

issue

11

eissn

0028-3878

issn

1526-632X

pii

67/11/2016

journal_volume

67

pub_type

杂志文章
  • Why do frontal lobe symptoms predominate in vascular dementia with lacunes?

    abstract::We studied 30 necropsy cases of vascular dementia with a lacunar state. Manifestations included dementia, lack of volition, emotional lability, small-stepped gait, dysarthria, urinary incontinence, grasp reflex, pyramidal signs, paraplegia in flexion, and akinetic mutism. Pathologically, there was diffuse incomplete s...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.36.3.340

    authors: Ishii N,Nishihara Y,Imamura T

    更新日期:1986-03-01 00:00:00

  • Vitamin B12 status and rate of brain volume loss in community-dwelling elderly.

    abstract:OBJECTIVES:To investigate the relationship between markers of vitamin B(12) status and brain volume loss per year over a 5-year period in an elderly population. METHODS:A prospective study of 107 community-dwelling volunteers aged 61 to 87 years without cognitive impairment at enrollment. Volunteers were assessed year...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000325581.26991.f2

    authors: Vogiatzoglou A,Refsum H,Johnston C,Smith SM,Bradley KM,de Jager C,Budge MM,Smith AD

    更新日期:2008-09-09 00:00:00

  • Classification algorithms using multiple MRI features in mild traumatic brain injury.

    abstract:OBJECTIVE:The purpose of this study was to develop an algorithm incorporating MRI metrics to classify patients with mild traumatic brain injury (mTBI) and controls. METHODS:This was an institutional review board-approved, Health Insurance Portability and Accountability Act-compliant prospective study. We recruited pat...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000000834

    authors: Lui YW,Xue Y,Kenul D,Ge Y,Grossman RI,Wang Y

    更新日期:2014-09-30 00:00:00

  • Amnesia with hippocampal lesions after cardiopulmonary arrest.

    abstract::A patient developed an amnesic syndrome after cardiopulmonary arrest. Neuropathologic examination revealed pronounced anoxic injury to both hippocampi with little damage to other hemisphere structures. The clinical and pathologic findings suggest that lesions limited to the hippocampus can cause profound amnesia. ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.34.5.679

    authors: Cummings JL,Tomiyasu U,Read S,Benson DF

    更新日期:1984-05-01 00:00:00

  • Sensory Guillain-Barré syndrome.

    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

    authors: Oh SJ,LaGanke C,Claussen GC

    更新日期:2001-01-09 00:00:00

  • Socioeconomic status and disability progression in multiple sclerosis: A multinational study.

    abstract:OBJECTIVE:To examine the association between socioeconomic status (SES) and disability outcomes and progression in multiple sclerosis (MS). METHODS:Health administrative and MS clinical data were linked for 2 cohorts of patients with MS in British Columbia (Canada) and South East Wales (UK). SES was measured at MS sym...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000007190

    authors: Harding KE,Wardle M,Carruthers R,Robertson N,Zhu F,Kingwell E,Tremlett H

    更新日期:2019-03-26 00:00:00

  • Multiple sclerosis after age 50.

    abstract::When multiple sclerosis (MS) presents late in life (after the age of 50), it frequently gives diagnostic difficulty. In a large MS clinic population (N = 838), 9.4% of the patients had late onset of MS. Slow deterioration of motor function characterized the initial symptoms and subsequent course of this group of older...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.33.12.1537

    authors: Noseworthy J,Paty D,Wonnacott T,Feasby T,Ebers G

    更新日期:1983-12-01 00:00:00

  • Nonmydriatic ocular fundus photography among headache patients in an emergency department.

    abstract:OBJECTIVES:Determine the frequency of and the predictive factors for abnormal ocular fundus findings among emergency department (ED) headache patients. METHODS:Cross-sectional study of prospectively enrolled adult patients presenting to our ED with a chief complaint of headache. Ocular fundus photographs were obtained...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31827f0f20

    authors: Thulasi P,Fraser CL,Biousse V,Wright DW,Newman NJ,Bruce BB

    更新日期:2013-01-29 00:00:00

  • Age- and sex-specific analysis of patients with embolic stroke of undetermined source.

    abstract:OBJECTIVE:To investigate whether the correlation of age and sex with the risk of recurrence and death seen in patients with previous ischemic stroke is also evident in patients with embolic stroke of undetermined source (ESUS). METHODS:We pooled datasets of 11 stroke registries from Europe and America. ESUS was define...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004199

    authors: Ntaios G,Lip GYH,Vemmos K,Koroboki E,Manios E,Vemmou A,Rodríguez-Campello A,Cuadrado-Godia E,Roquer J,Arnao V,Caso V,Paciaroni M,Diez-Tejedor E,Fuentes B,Pérez Lucas J,Arauz A,Ameriso SF,Pertierra L,Gómez-Schneider M

    更新日期:2017-08-08 00:00:00

  • Natalizumab reduces visual loss in patients with relapsing multiple sclerosis.

    abstract:OBJECTIVE:To examine the effects of natalizumab on low-contrast letter acuity as a prespecified tertiary endpoint in two randomized clinical trials and to evaluate the usefulness of low-contrast letter acuity testing as a candidate test of visual function in multiple sclerosis (MS). METHODS:AFFIRM and SENTINEL were ra...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1212/01.wnl.0000259521.14704.a8

    authors: Balcer LJ,Galetta SL,Calabresi PA,Confavreux C,Giovannoni G,Havrdova E,Hutchinson M,Kappos L,Lublin FD,Miller DH,O'Connor PW,Phillips JT,Polman CH,Radue EW,Rudick RA,Stuart WH,Wajgt A,Weinstock-Guttman B,Wynn DR,Lyn

    更新日期:2007-04-17 00:00:00

  • Oligodendrocyte-binding antibodies in multiple sclerosis: 125I-protein A studies.

    abstract::Sera from patients with multiple sclerosis (MS), patients with neurologic diseases other than MS, controls (adult and newborn), and rabbits immunized with bovine oligodendrocytes were assayed for antioligodendrocyte antibodies by a binding test with 125I-protein A. The mean binding of 125I-protein A to oligodendrocyte...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.30.5.540

    authors: Steck AJ,Regli F

    更新日期:1980-05-01 00:00:00

  • Quantitative evaluation of the effects of L-dopa in torsion dystonia: a case report.

    abstract::We used electrophysiologic methods in the diagnosis of torsion dystonia and the evaluation of therapy in a 7-year-old child. Electromyographic (EMG) activity patterns in five leg muscles were recorded during specific voluntary and passive movements as well as during gait. We found patterns of coactivation in leg muscl...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.33.8.1083

    authors: Richards CL,Bédard PJ,Fortin G,Malouin F

    更新日期:1983-08-01 00:00:00

  • Memory complaints and APOE-epsilon4 accelerate cognitive decline in cognitively normal elderly.

    abstract:OBJECTIVE:To investigate to what extent subjective memory complaints and APOE-epsilon4 allele carriage predict future cognitive decline in cognitively intact elderly persons, by evaluating both their separate and combined effects. METHODS:We selected 1,168 subjects from the population-based Longitudinal Aging Study Am...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.57.12.2217

    authors: Dik MG,Jonker C,Comijs HC,Bouter LM,Twisk JW,van Kamp GJ,Deeg DJ

    更新日期:2001-12-26 00:00:00

  • Primary writing tremor and myoclonic writer's cramp.

    abstract::Four patients with primary writing tremor had a focal, task-specific tremor that responded to anticholinergic drugs. Physiologic features included EMG activity alternating in antagonist muscles, 5- to 20-microV cerebral potentials evoked by stretch of pronator teres, and no C-reflexes. Another patient had myoclonic je...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.35.9.1387

    authors: Ravits J,Hallett M,Baker M,Wilkins D

    更新日期:1985-09-01 00:00:00

  • Correlations between magnetization transfer metrics and other magnetic resonance abnormalities in multiple sclerosis.

    abstract::Magnetization transfer imaging (MTI) is a magnetic resonance imaging (MRI) technique that is now used in multiple sclerosis (MS) studies, and is thought to have a higher pathological specificity than conventional T2-weighted imaging. This review outlines the correlations between magnetization transfer (MT) metrics and...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:

    authors: Rovaris M,Horsfield MA,Filippi M

    更新日期:1999-01-01 00:00:00

  • Virtual Reality Training for Upper Extremity in Subacute Stroke (VIRTUES): A multicenter RCT.

    abstract:OBJECTIVE:To compare the effectiveness of upper extremity virtual reality rehabilitation training (VR) to time-matched conventional training (CT) in the subacute phase after stroke. METHODS:In this randomized, controlled, single-blind phase III multicenter trial, 120 participants with upper extremity motor impairment ...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1212/WNL.0000000000004744

    authors: Brunner I,Skouen JS,Hofstad H,Aßmus J,Becker F,Sanders AM,Pallesen H,Qvist Kristensen L,Michielsen M,Thijs L,Verheyden G

    更新日期:2017-12-12 00:00:00

  • Psychological distress, major depressive disorder, and risk of stroke.

    abstract:BACKGROUND:Studies have suggested that mood status is associated with an increased risk of stroke, though mostly based on measures of depression defined by symptoms alone rather than diagnostic criteria representative of clinically important distress and impairment. We investigated this association based upon a large p...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000304109.18563.81

    authors: Surtees PG,Wainwright NW,Luben RN,Wareham NJ,Bingham SA,Khaw KT

    更新日期:2008-03-04 00:00:00

  • Should the Babinski sign be part of the routine neurologic examination?

    abstract:BACKGROUND:The Babinski sign is a well-known sign of upper motor neuron dysfunction that is widely considered an essential element of a complete neurologic examination. Little is known about reliability and validity of this sign. A less well-known sign of upper motor neuron dysfunction, decreased speed of foot tapping,...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000180608.76190.10

    authors: Miller TM,Johnston SC

    更新日期:2005-10-25 00:00:00

  • Effect of tryptophan depletion on symptoms of motion sickness in migraineurs.

    abstract::Seven hours after 39 migraineurs and 37 controls consumed an amino acid drink that contained or omitted l-tryptophan (thereby reducing brain serotonin synthesis), motion sickness was provoked by the visual illusion of movement. Tryptophan depletion boosted dizziness, nausea, and the illusion of movement in controls to...

    journal_title:Neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1212/01.wnl.0000172339.15577.a6

    authors: Drummond PD

    更新日期:2005-08-23 00:00:00

  • Erenumab in chronic migraine: Patient-reported outcomes in a randomized double-blind study.

    abstract:OBJECTIVE:To determine the effect of erenumab, a human monoclonal antibody targeting the calcitonin gene-related peptide receptor, on health-related quality of life (HRQoL), headache impact, and disability in patients with chronic migraine (CM). METHODS:In this double-blind, placebo-controlled study, 667 adults with C...

    journal_title:Neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1212/WNL.0000000000007452

    authors: Lipton RB,Tepper SJ,Reuter U,Silberstein S,Stewart WF,Nilsen J,Leonardi DK,Desai P,Cheng S,Mikol DD,Lenz R

    更新日期:2019-05-07 00:00:00

  • Pontine anosognosia for hemiplegia.

    abstract::Four patients had anosognosia for hemiplegia (AHP) as a manifestation of pontine infarction in the mediolateral region. Patients with AHP syndrome had no mental and neuropsychologic disturbances, and all had involvement of the medial or lateral part of the pons (medial or lateral pontine reticular nuclei). Brainstem l...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.53.3.647

    authors: Evyapan D,Kumral E

    更新日期:1999-08-11 00:00:00

  • Weir Mitchell's 1859 demonstration of "a peculiar contraction" produced by a percussion hammer.

    abstract:BACKGROUND:The 1875 publications of Erb and Westphal brought widespread attention to the percussion of muscle stretch reflexes. Although the maneuver may have been observed before 1875, there is little concrete evidence of this. OBJECTIVES:To bring to light an early report of percussion eliciting the muscle stretch re...

    journal_title:Neurology

    pub_type: 传,历史文章,杂志文章

    doi:10.1212/01.wnl.0000305968.03898.fe

    authors: Louis ED

    更新日期:2008-03-18 00:00:00

  • Abnormal perception of vibration-induced illusion of movement in dystonia.

    abstract:OBJECTIVES:To examine the illusional sensation of movement evoked by vibration of an immobilized arm. METHODS:Patients with idiopathic focal dystonia were compared with those with idiopathic PD and with patients with dystonia secondary to PD. A 100-Hz transcutaneous vibratory stimulus was applied to the biceps brachii...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.53.8.1794

    authors: Rome S,Grünewald RA

    更新日期:1999-11-10 00:00:00

  • Acute late-onset encephalopathy after radiotherapy: an unusual life-threatening complication.

    abstract::Unusual late-onset complications of brain irradiation, characterized by reversible neurologic focal signs, seizures, and MRI alterations, have recently been reported and classified as stroke-like migraine attacks after radiation therapy (SMART)(1) and peri-ictal pseudoprogression (PIPG).(2.) ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3182a43b1f

    authors: Di Stefano AL,Berzero G,Vitali P,Galimberti CA,Ducray F,Ceroni M,Bastianello S,Colombo AA,Simoncelli A,Brunelli MC,Giometto B,Diamanti L,Gaviani P,Salmaggi A,Silvani A,Marchioni E

    更新日期:2013-09-10 00:00:00

  • Daily energy expenditure in free-living non-institutionalized Alzheimer's patients: a doubly labeled water study.

    abstract::Weight loss is common in Alzheimer's disease (AD), but its pathogenesis is poorly understood. It is unclear whether an elevated daily energy expenditure contributes to the weight loss. We tested the hypothesis that daily energy expenditure is higher in AD patients compared to healthy elderly. Thirty AD (73 +/- 8 years...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.48.4.997

    authors: Poehlman ET,Toth MJ,Goran MI,Carpenter WH,Newhouse P,Rosen CJ

    更新日期:1997-04-01 00:00:00

  • Wolfram syndrome: evidence of a diffuse neurodegenerative disease by magnetic resonance imaging.

    abstract::Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.42.6.1220

    authors: Rando TA,Horton JC,Layzer RB

    更新日期:1992-06-01 00:00:00

  • Depression in patients with early versus late onset of Parkinson's disease.

    abstract::We examined correlates of depression in patients whose onset of Parkinson's disease (PD) began before age 55 (early-onset group) compared with patients whose onset was after age 55 (late-onset group). The early-onset group showed a significantly higher frequency of depression than the late-onset group. When both group...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.39.11.1441

    authors: Starkstein SE,Berthier ML,Bolduc PL,Preziosi TJ,Robinson RG

    更新日期:1989-11-01 00:00:00

  • A representational vertical bias.

    abstract::We attempted to determine whether separable components underlie normal subjects' upward bias in bisecting vertical and radial lines under visual guidance. Twelve normal subjects indicated the midpoint of visually presented lines oriented vertically, radially, and horizontally. We placed directional labels ("TOP" and "...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.44.4.703

    authors: Jeerakathil TJ,Kirk A

    更新日期:1994-04-01 00:00:00

  • Effect of rebleeding on the course and incidence of vasospasm after subarachnoid hemorrhage.

    abstract:OBJECTIVE:Rebleeding of an aneurysm is a leading cause of morbidity and mortality after subarachnoid hemorrhage (SAH). Whereas numerous studies have demonstrated the risk factors associated with rebleeding, few data on complications of rebleeding, including its effect on the development of delayed cerebral ischemia (DC...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31823ed0a4

    authors: Lord AS,Fernandez L,Schmidt JM,Mayer SA,Claassen J,Lee K,Connolly ES,Badjatia N

    更新日期:2012-01-03 00:00:00

  • Diagnostic utility of abbreviated fluency measures in Alzheimer disease and vascular dementia.

    abstract:BACKGROUND:Several studies indicate semantic fluency more sensitively discriminates patients with Alzheimer disease (AD) from normal elderly persons, with disproportionate impairment of semantic over phonemic fluency. OBJECTIVE:To determine the ability of abbreviated fluency measures in the clinic setting (1-minute le...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.62.4.556

    authors: Canning SJ,Leach L,Stuss D,Ngo L,Black SE

    更新日期:2004-02-24 00:00:00