Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Abstract:

OBJECTIVE:To identify the genetic cause of a familial form of late-onset action myoclonus in 2 unrelated patients. Both probands had 2 siblings displaying a similar disorder. Extensive laboratory examinations, including biochemical assessment for urine sialic acid in the 2 probands, were negative. METHODS:Exome sequencing was performed in the probands using an Illumina platform. Segregation analysis of putative mutations was performed in all family members by standard Sanger sequencing protocols. RESULTS:NEU1 mutations were detected in 3 siblings of each family with prominent cortical myoclonus presenting in the third decade of life and having a mild and slowly progressive course. They did not have macular cherry-red spot and their urinary sialic acid excretion was within normal values. Genetic analysis demonstrated a homozygous mutation in family 1 (c.200G>T, p.S67I) and 2 compound heterozygous mutations in family 2 (c.679G>A, p.G227R; c.913C>T, p.R305C). CONCLUSIONS:Our observation indicates that sialidosis should be suspected and the NEU1 gene analyzed in patients with isolated action myoclonus presenting in adulthood in the absence of other typical clinical and laboratory findings.

journal_name

Neurology

journal_title

Neurology

authors

Canafoglia L,Robbiano A,Pareyson D,Panzica F,Nanetti L,Giovagnoli AR,Venerando A,Gellera C,Franceschetti S,Zara F

doi

10.1212/WNL.0000000000000482

subject

Has Abstract

pub_date

2014-06-03 00:00:00

pages

2003-6

issue

22

eissn

0028-3878

issn

1526-632X

pii

WNL.0000000000000482

journal_volume

82

pub_type

杂志文章,评审
  • Sample size estimations for MRI-monitored trials of MS comparing new vs standard treatments.

    abstract::The authors estimated the sample sizes needed for exploratory trials of MS assessing the efficacy of new treatments in reducing the number of new enhancing lesions vs those of interferon-beta or glatiramer acetate. The sample sizes per arm ranged from 868 (effect: 20%) to 94 (effect: 50%) for patients with relapsing-r...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.57.10.1883

    authors: Sormani MP,Rovaris M,Bagnato F,Molyneux P,Bruzzi P,Pozzilli C,Miller DH,Comi G,Filippi M

    更新日期:2001-11-27 00:00:00

  • Evidence-based guideline: Treatment of painful diabetic neuropathy: report of the American Academy of Neurology, the American Association of Neuromuscular and Electrodiagnostic Medicine, and the American Academy of Physical Medicine and Rehabilitation.

    abstract:OBJECTIVE:To develop a scientifically sound and clinically relevant evidence-based guideline for the treatment of painful diabetic neuropathy (PDN). METHODS:We performed a systematic review of the literature from 1960 to August 2008 and classified the studies according to the American Academy of Neurology classificati...

    journal_title:Neurology

    pub_type: 指南,杂志文章,评审

    doi:10.1212/WNL.0b013e3182166ebe

    authors: Bril V,England J,Franklin GM,Backonja M,Cohen J,Del Toro D,Feldman E,Iverson DJ,Perkins B,Russell JW,Zochodne D,American Academy of Neurology.,American Association of Neuromuscular and Electrodiagnostic Medicine.,American Acade

    更新日期:2011-05-17 00:00:00

  • Impaired insulin secretion increases the risk of Alzheimer disease.

    abstract:OBJECTIVE:Subjects with diabetes are reported to have an increased risk of dementia and cognitive impairment. However, the underlying causes remain unknown. We investigated the longitudinal associations between midlife insulin secretion, glucose metabolism, and the subsequent development of Alzheimer disease (AD) and d...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000310646.32212.3a

    authors: Rönnemaa E,Zethelius B,Sundelöf J,Sundström J,Degerman-Gunnarsson M,Berne C,Lannfelt L,Kilander L

    更新日期:2008-09-30 00:00:00

  • Pediatric metrizamide CT cisternography: cerebrospinal fluid circulation and hydrocephalus.

    abstract::The technique of intrathecal enhancement using metrizamide (Amipaque) combined with CT imaging enables both the morphologic and dynamic (serial) evaluation of the intracranial cerebrospinal fluid pathways. Three distinct metrizamide CT cisternographic patterns (delayed, intermediate, and normal) emerge in pediatric pa...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.28.1.71

    authors: Drayer BP,Rosenbaum AE

    更新日期:1978-01-01 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

  • Brain death worldwide: accepted fact but no global consensus in diagnostic criteria.

    abstract:OBJECTIVE:To survey brain death criteria throughout the world. BACKGROUND:The clinical diagnosis of brain death allows organ donation or withdrawal of support. Declaration of brain death follows a certain set of examinations. The code of practice throughout the world has not been systematically investigated. METHODS:...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.58.1.20

    authors: Wijdicks EF

    更新日期:2002-01-08 00:00:00

  • Optic neuritis in the elderly: prognosis for visual recovery and long-term follow-up.

    abstract::We evaluated 14 patients with idiopathic optic neuritis, 50 years of age or older, within 1 month of symptomatic onset from 1980 through 1985. We obtained follow-up information from case records an average of 13 months after initial examination and from telephone interviews an average of 57 months after initial evalua...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.12.1834

    authors: Jacobson DM,Thompson HS,Corbett JJ

    更新日期:1988-12-01 00:00:00

  • Idiopathic intracranial hypertension without papilledema: a case-control study in a headache center.

    abstract:OBJECTIVE:To compare the clinical features of patients with chronic daily headache (CDH) with idiopathic intracranial hypertension without papilledema (IIHWOP) to those with normal CSF pressure. METHODS:A case-control study was conducted at a tertiary headache center. Cases consisted of 25 consecutive patients (24 wom...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.51.1.245

    authors: Wang SJ,Silberstein SD,Patterson S,Young WB

    更新日期:1998-07-01 00:00:00

  • Gustatory agnosia.

    abstract:OBJECTIVE:To report the assessment of a patient exhibiting gustatory agnosia. METHODS:Preoperative and postoperative neuropsychological, neuroimaging, and chemosensory evaluations were performed in a 39-year-old woman undergoing surgical treatment for intractable epilepsy. RESULTS:Preoperative MRIs showed bilateral (...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.WNL.0000149515.77718.35

    authors: Small DM,Bernasconi N,Bernasconi A,Sziklas V,Jones-Gotman M

    更新日期:2005-01-25 00:00:00

  • Domain-dependent clustering and genotype-phenotype analysis of LGI1 mutations in ADPEAF.

    abstract:OBJECTIVE:In families with autosomal dominant partial epilepsy with auditory features (ADPEAF) with mutations in the LGI1 gene, we evaluated clustering of mutations within the gene and associations of penetrance and phenotypic features with mutation location and predicted effect (truncation or missense). METHODS:We ab...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e318247ccbf

    authors: Ho YY,Ionita-Laza I,Ottman R

    更新日期:2012-02-21 00:00:00

  • HLA-DQ1 associated with reflex sympathetic dystrophy.

    abstract::Reflex sympathetic dystrophy (RSD) is a relatively common disabling disorder of unknown pathophysiology. From a cohort of 52 patients, carefully selected to fulfill the recently formulated diagnostic criteria for RSD, venous blood samples were taken for typing of class I and II major histocompatibility antigens. The f...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.53.6.1350

    authors: Kemler MA,van de Vusse AC,van den Berg-Loonen EM,Barendse GA,van Kleef M,Weber WE

    更新日期:1999-10-12 00:00:00

  • Absence of IgG1 response in the cerebrospinal fluid of relapsing neuromyelitis optica.

    abstract::The authors studied immunoglobulin (Ig) G subclasses in the CSF and sera of patients with relapsing neuromyelitis optica (RNMO) and typical multiple sclerosis (MS). Although the total IgG concentrations were elevated in the CSF of patients with RNMO and MS, IgG1% and IgG1 index were significantly elevated only in pati...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.62.1.144

    authors: Nakashima I,Fujihara K,Fujimori J,Narikawa K,Misu T,Itoyama Y

    更新日期:2004-01-13 00:00:00

  • Measuring disease progression in frontotemporal lobar degeneration: a clinical and MRI study.

    abstract:OBJECTIVES:There is currently much interest in biomarkers of disease activity in frontotemporal lobar degeneration (FTLD). We assessed MRI and behavioral measures of progression in a longitudinal FTLD cohort. METHODS:Thirty-two patients with FTLD (11 behavioral variant frontotemporal dementia [bvFTD], 11 semantic deme...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181d1a879

    authors: Gordon E,Rohrer JD,Kim LG,Omar R,Rossor MN,Fox NC,Warren JD

    更新日期:2010-02-23 00:00:00

  • Evidence-based guideline: diagnostic accuracy of CSF 14-3-3 protein in sporadic Creutzfeldt-Jakob disease: report of the guideline development subcommittee of the American Academy of Neurology.

    abstract:OBJECTIVE:To assess the available evidence for the diagnostic accuracy of CSF testing for protein 14-3-3 in patients with suspected sporadic Creutzfeldt-Jakob disease (sCJD). METHODS:The authors performed a systematic review of the available literature from 1995 to January 1, 2011, to identify articles involving patie...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31826d5fc3

    authors: Muayqil T,Gronseth G,Camicioli R

    更新日期:2012-10-02 00:00:00

  • Is there a neurologist on this flight?

    abstract:OBJECTIVE:To analyze the frequency of neurologic events during commercial airline flights and to assess whether onboard emergency medical kits are adequate for in-flight neurologic emergencies. METHODS:Collaboration of the Mayo Clinic's Departments of Emergency Medicine and Medical Transportation Service and the Divis...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/wnl.58.12.1739

    authors: Sirven JI,Claypool DW,Sahs KL,Wingerchuk DM,Bortz JJ,Drazkowski J,Caselli R,Zanick D

    更新日期:2002-06-25 00:00:00

  • MRI characteristics of the MLF in MS patients with chronic internuclear ophthalmoparesis.

    abstract:OBJECTIVE:The authors imaged the medial longitudinal fasciculus (MLF) in 58 patients with MS and chronic internuclear ophthalmoparesis (INO) to determine which MRI technique best shows the characteristic lesion associated with this ocular motor syndrome. METHODS:Using quantitative infrared oculography, the authors det...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.57.5.762

    authors: Frohman EM,Zhang H,Kramer PD,Fleckenstein J,Hawker K,Racke MK,Frohman TC

    更新日期:2001-09-11 00:00:00

  • Restless legs syndrome: a predictor of lower physical function.

    abstract::Restless legs syndrome (RLS) is characterized by an urge to move the legs. The symptoms are more intense in the evening and during periods of inactivity. RLS symptoms are relieved by movement. It is classified as a sleep disorder, but in many ways it is actually a disorder of wakefulness that seems to intrude upon the...

    journal_title:Neurology

    pub_type: 评论,社论

    doi:10.1212/WNL.0000000000000298

    authors: Auerbach S,Walters AS

    更新日期:2014-04-08 00:00:00

  • Effect of endovascular reperfusion in relation to site of arterial occlusion.

    abstract:OBJECTIVE:To assess whether the association between reperfusion and improved clinical outcomes after stroke differs depending on the site of the arterial occlusive lesion (AOL). METHODS:We pooled data from Solitaire With the Intention for Thrombectomy (SWIFT), Solitaire FR Thrombectomy for Acute Revascularisation (STA...

    journal_title:Neurology

    pub_type: 杂志文章,meta分析

    doi:10.1212/WNL.0000000000002399

    authors: Lemmens R,Hamilton SA,Liebeskind DS,Tomsick TA,Demchuk AM,Nogueira RG,Marks MP,Jahan R,Gralla J,Yoo AJ,Yeatts SD,Palesch YY,Saver JL,Pereira VM,Broderick JP,Albers GW,Lansberg MG,DEFUSE 2, IMS III, STAR, and SWIFT trial

    更新日期:2016-02-23 00:00:00

  • Environmental risk factors and Parkinson's disease: a case-control study in Taiwan.

    abstract::To explore environmental risk factors for Parkinson's disease (PD) in Taiwan, we investigated 120 patients with PD and 240 hospital control subjects matched with patients on age (+/-2 years) and sex. Based on a structured open-ended questionnaire, we carried out standardized interviews to obtain history of exposure to...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.48.6.1583

    authors: Liou HH,Tsai MC,Chen CJ,Jeng JS,Chang YC,Chen SY,Chen RC

    更新日期:1997-06-01 00:00:00

  • Large-scale replication and heterogeneity in Parkinson disease genetic loci.

    abstract:OBJECTIVE:Eleven genetic loci have reached genome-wide significance in a recent meta-analysis of genome-wide association studies in Parkinson disease (PD) based on populations of Caucasian descent. The extent to which these genetic effects are consistent across different populations is unknown. METHODS:Investigators f...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e318264e353

    authors: Sharma M,Ioannidis JP,Aasly JO,Annesi G,Brice A,Van Broeckhoven C,Bertram L,Bozi M,Crosiers D,Clarke C,Facheris M,Farrer M,Garraux G,Gispert S,Auburger G,Vilariño-Güell C,Hadjigeorgiou GM,Hicks AA,Hattori N,Jeon B,

    更新日期:2012-08-14 00:00:00

  • Limb-kinetic apraxia in Parkinson disease.

    abstract::To learn if limb-kinetic apraxia (LKA) is associated with Parkinson disease (PD), participants with PD (on medications) and control subjects performed finger tapping (FT), measuring movement speed, and performed coin rotation (CR), measuring precise coordinated but independent finger movements and speed. There were no...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000250331.35912.a5

    authors: Quencer K,Okun MS,Crucian G,Fernandez HH,Skidmore F,Heilman KM

    更新日期:2007-01-09 00:00:00

  • Subcortical aphasia: the core profile of capsulostriatal infarction.

    abstract::There has been disagreement about the precise characteristics of "subcortical aphasia." We evaluated 14 patients with aphasia after subcortical lesions and controlled for duration, general anatomic site of lesions (capsulostriatal only), and etiology. The clinical profiles of the patients were quite similar, varying i...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.44.10.1824

    authors: Mega MS,Alexander MP

    更新日期:1994-10-01 00:00:00

  • Intermittent cyclophosphamide with prednisone versus placebo for polyneuropathy with IgM monoclonal gammopathy.

    abstract:BACKGROUND:The best treatment for polyneuropathy associated with IgM monoclonal gammopathy (MGUS) is unknown. Oral cyclophosphamide combined with prednisone showed limited efficacy in a previous open label pilot study. We therefore performed a double-blind, randomized, placebo-controlled study of combined oral cyclopho...

    journal_title:Neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1212/01.wnl.0000265055.28218.cc

    authors: Niermeijer JM,Eurelings M,van der Linden MW,Lokhorst HM,Franssen H,Fischer K,Teunissen LL,van den Berg LH,Schobben F,Wokke JH,Notermans NC

    更新日期:2007-07-03 00:00:00

  • Spontaneous thrombosis of a giant cerebral aneurysm in five days. Report of a case.

    abstract::This single case report describes a large (giant) left internal carotid aneurysm that showed a very marked decrease in the size of its lumen on reevaluation 5 days after the initial arteriogram. A review of the literature found only 5 cases of spontaneous thrombosis documented by arteriography and only one involved a ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.26.4.334

    authors: Carlson DH,Thomson D

    更新日期:1976-04-01 00:00:00

  • Salla disease: a new lysosomal storage disorder with disturbed sialic acid metabolism.

    abstract::Salla disease is a lysosomal storage disorder associated with increased urinary excretion of free sialic acid. The main clinical features in 34 patients were severe psychomotor retardation of early onset, ataxia, athetosis, rigidity, spasticity, and impaired speech. Growth retardation, thick calvarium, and exotropia w...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.33.1.57

    authors: Renlund M,Aula P,Raivio KO,Autio S,Sainio K,Rapola J,Koskela SL

    更新日期:1983-01-01 00:00:00

  • Anterograde transneuronal degeneration in the limbic system: clinical-anatomic correlation.

    abstract::A 64-year-old man with diffuse atherosclerosis developed an organic mental syndrome, followed by hypothalamic symptoms. Autopsy showed an old large cystic infarct involving the left temporal lobe including the hippocampus, and atrophy of the ipsilateral fornix, mammillary body, hypothalamus, mammillothalamic tract, an...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.27.12.1157

    authors: Torch WC,Hirano A,Solomon S

    更新日期:1977-12-01 00:00:00

  • Anatomical evidence of an indirect pathway for word repetition.

    abstract:OBJECTIVE:To combine MRI-based cortical morphometry and diffusion white matter tractography to describe the anatomical correlates of repetition deficits in patients with primary progressive aphasia (PPA). METHODS:The traditional anatomical model of language identifies a network for word repetition that includes Wernic...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000008746

    authors: Forkel SJ,Rogalski E,Drossinos Sancho N,D'Anna L,Luque Laguna P,Sridhar J,Dell'Acqua F,Weintraub S,Thompson C,Mesulam MM,Catani M

    更新日期:2020-02-11 00:00:00

  • Longitudinal diffusion changes following postoperative delirium in older people without dementia.

    abstract:OBJECTIVE:To investigate the effect of postoperative delirium on longitudinal brain microstructural changes, as measured by diffusion tensor imaging. METHODS:We studied a subset of the larger Successful Aging after Elective Surgery (SAGES) study cohort of older adults (≥70 years) without dementia undergoing elective s...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004329

    authors: Cavallari M,Dai W,Guttmann CRG,Meier DS,Ngo LH,Hshieh TT,Fong TG,Schmitt E,Press DZ,Travison TG,Marcantonio ER,Jones RN,Inouye SK,Alsop DC,SAGES Study Group.

    更新日期:2017-09-05 00:00:00

  • Season of birth and risk of brain tumors in adults.

    abstract:BACKGROUND:Recent studies demonstrated an excess of winter births in children with brain tumors and in adults with various neurologic or psychiatric diseases relative to the general population. OBJECTIVE:To investigate a possible association between month of birth and risk of brain tumors in adults using data from a l...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1212/01.wnl.0000129984.01327.9d

    authors: Brenner AV,Linet MS,Shapiro WR,Selker RG,Fine HA,Black PM,Inskip PD

    更新日期:2004-07-27 00:00:00

  • An evaluation of the predictive validity and inter-rater reliability of clinical diagnostic criteria for senile dementia of Lewy body type.

    abstract::Several recent autopsy studies suggest that senile dementia of Lewy body type (SDLT) may be the second most common neuropathologic cause of dementia in the elderly, accounting for 7 to 30% of all cases. Operational criteria for the antemortem clinical diagnosis of SDLT have already been proposed by our group. The perf...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.44.5.872

    authors: McKeith IG,Fairbairn AF,Bothwell RA,Moore PB,Ferrier IN,Thompson P,Perry RH

    更新日期:1994-05-01 00:00:00