How have advances in genetic technology modified movement disorder nosology?

Abstract:

:The role of genetics and its technological development have been fundamental in advancing the field of movement disorders, opening the door to precision medicine. Starting from the revolutionary discovery of the locus of the Huntington's disease gene, we review the milestones of genetic discoveries in movement disorders and their impact on clinical practice and research efforts. Before the 1980s, early techniques did not allow the identification of genetic alteration in complex diseases. Further advances increasingly defined a large number of pathogenic genetic alterations. Moreover, these techniques allowed epigenomic, transcriptomic and microbiome analyses. In the 2020s, these new technologies are poised to displace phenotype-based classifications towards a nosology based on genetic/biological data. Advances in genetic technologies are engineering a reversal of the phenotype-to-genotype order of nosology development, replacing convergent clinicopathological disease models with the genotypic divergence required for future precision medicine applications.

journal_name

Eur J Neurol

authors

Sturchio A,Marsili L,Mahajan A,Grimberg MB,Kauffman MA,Espay AJ

doi

10.1111/ene.14294

subject

Has Abstract

pub_date

2020-08-01 00:00:00

pages

1461-1470

issue

8

eissn

1351-5101

issn

1468-1331

journal_volume

27

pub_type

杂志文章,评审
  • European Stroke Organization guideline for the diagnosis and treatment of cerebral venous thrombosis - endorsed by the European Academy of Neurology.

    abstract:BACKGROUND AND PURPOSE:Current guidelines on cerebral venous thrombosis (CVT) diagnosis and management were issued by the European Federation of Neurological Societies in 2010. We aimed to update the previous European Federation of Neurological Societies guidelines using a clearer and evidence-based methodology. METHO...

    journal_title:European journal of neurology

    pub_type: 杂志文章,实务指引

    doi:10.1111/ene.13381

    authors: Ferro JM,Bousser MG,Canhão P,Coutinho JM,Crassard I,Dentali F,di Minno M,Maino A,Martinelli I,Masuhr F,Aguiar de Sousa D,Stam J,European Stroke Organization.

    更新日期:2017-10-01 00:00:00

  • Do white matter hyperintensities mediate the association between brain iron deposition and cognitive abilities in older people?

    abstract:BACKGROUND AND PURPOSE:Several studies have reported associations between brain iron deposits (IDs), white matter hyperintensities (WMHs) and cognitive ability in older individuals. Whether the association between brain IDs and cognitive abilities in older people is mediated by or independent of total brain tissue dama...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13006

    authors: Valdés Hernández M,Allerhand M,Glatz A,Clayson L,Muñoz Maniega S,Gow A,Royle N,Bastin M,Starr J,Deary I,Wardlaw J

    更新日期:2016-07-01 00:00:00

  • Speed performance and long-term functional and vocational outcome in a group of young patients with moderate or severe traumatic brain injury.

    abstract::We studied specific aspects of speed performance in neuropsychological tests and functional and vocational long-term outcome among moderate or severe traumatic brain injury (TBI) patients admitted to a rehabilitation programme. A group of 140 patients with mild, moderate or severe TBI was followed up for a minimum of ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.1999.tb00011.x

    authors: Asikainen I,Nybo T,Muller K,Sarna S,Kaste M

    更新日期:1999-03-01 00:00:00

  • Acute idiopathic optic neuritis: not always benign.

    abstract:BACKGROUND AND PURPOSE:Few recent data are available concerning idiopathic optic neuritis (ON). We aimed to describe a large cohort of patients with idiopathic ON. We compared this cohort with patients with ON related to myelin oligodendrocyte glycoprotein (MOG) or ON related to aquaporin-4 (AQP4) antibodies. METHODS:...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13753

    authors: Deschamps R,Gueguen A,Lecler A,Lecouturier K,Lamirel C,Bensa C,Marignier R,Vignal C,Gout O

    更新日期:2018-11-01 00:00:00

  • Effect of glatiramer acetate on disease reactivation in MS patients discontinuing natalizumab.

    abstract:BACKGROUND AND PURPOSE:Multiple sclerosis (MS) patients discontinuing natalizumab are at risk of rebound of disease activity. METHODS:In the present multi-center, open-label, non-randomized, prospective, pilot study, we tested whether treatment with glatiramer acetate (GA) is safe and effective after natalizumab in MS...

    journal_title:European journal of neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1111/j.1468-1331.2012.03794.x

    authors: Rossi S,Motta C,Studer V,De Chiara V,Barbieri F,Monteleone F,Fornasiero A,Coarelli G,Bernardi G,Cutter G,Stüve O,Salvetti M,Centonze D

    更新日期:2013-01-01 00:00:00

  • Follow-up study of cardiac ¹²³I-MIBG scintigraphy in idiopathic REM sleep behavior disorder.

    abstract:BACKGROUND:Cardiac (123) I-metaiodobenzylguanidine ((123) I-MIBG) uptake in patients with idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD) is markedly reduced, as in Parkinson's disease (PD). METHODS:We performed (123) I-MIBG scintigrams on patients with iRBD and PD. After the initial (123) I-MIBG sc...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2011.03392.x

    authors: Miyamoto T,Miyamoto M,Iwanami M,Hirata K

    更新日期:2011-10-01 00:00:00

  • The seizure outcome after amygdalohippocampectomy and temporal lobectomy.

    abstract::The aim of this study was to compare the seizure outcome of two different types of epilepsy surgery, selective amygdalohippocampectomy (AHE) and anterior temporal lobectomy (ATLE) in patients with temporal lobe epilepsy. We included 114 patients who had mesio-temporal lobe epilepsy and hippocampal sclerosis or gliosis...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2006.01565.x

    authors: Bate H,Eldridge P,Varma T,Wieshmann UC

    更新日期:2007-01-01 00:00:00

  • Cranial nerve involvement in typical and atypical chronic inflammatory demyelinating polyneuropathies.

    abstract:BACKGROUND AND PURPOSE:Cranial nerve palsy is occasionally present in patients with chronic inflammatory demyelinating polyneuropathy (CIDP), but its prevalence, characteristics and relations with the CIDP subtypes have rarely been investigated. The aim of this study was to systematically assess cranial nerve involveme...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14497

    authors: Shibuya K,Tsuneyama A,Misawa S,Suichi T,Suzuki Y,Kojima Y,Nakamura K,Kano H,Prado M,Kuwabara S

    更新日期:2020-12-01 00:00:00

  • Placebo-controlled trial of riluzole in multiple system atrophy.

    abstract::We performed a placebo-controlled cross-over trial of riluzole (100 mg b.i.d.) in 10 patients with probable multiple system atrophy (MSA) administering riluzole and placebo for 4 weeks each with a 4-week washout period. Outcome measures evaluated short-term anti-Parkinsonian effects using the Unified Parkinson's Disea...

    journal_title:European journal of neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/j.1468-1331.2006.01452.x

    authors: Seppi K,Peralta C,Diem-Zangerl A,Puschban Z,Mueller J,Poewe W,Wenning GK

    更新日期:2006-10-01 00:00:00

  • Epilepsy in systemic lupus erythematosus: prevalence and risk factors.

    abstract:BACKGROUND AND PURPOSE:The aim was to study the prevalence of epilepsy in a hospital-based systemic lupus erythematosus (SLE) cohort and to investigate the relationship between epilepsy and other manifestations of neuropsychiatric SLE (NPSLE). METHODS:The study population consisted of 440 SLE patients recruited from 1...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14077

    authors: Hopia L,Andersson M,Svenungsson E,Khademi M,Piehl F,Tomson T

    更新日期:2020-02-01 00:00:00

  • A case-control study of Guillain-Barré syndrome in Harbin, China.

    abstract::We evaluated the putative factors for the onset of Guillain-Barré syndrome (GBS) in Harbin, China by a case-control study based on the information from GBS patients identified from a population-based incidence survey, which is the first study of this kind in China. Sixty-nine GBS patients were identified during a 1-ye...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2006.01390.x

    authors: Cheng Q,Wang DS,Jiang GX,Han H,Zhang Y,Wang WZ,Fredrikson S

    更新日期:2006-09-01 00:00:00

  • Correlation of the patient's reported outcome Inflammatory-RODS with an objective metric in immune-mediated neuropathies.

    abstract:BACKGROUND AND PURPOSE:There is increasing interest in using patient-reported outcome measures (PROMs) in clinical studies to capture individual changes over time. However, PROMs have also been criticized because they are entirely subjective. Our objective was to examine the relationship between a subjective PROM and a...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13025

    authors: Draak TH,Gorson KC,Vanhoutte EK,van Nes SI,van Doorn PA,Cornblath DR,van den Berg LH,Faber CG,Merkies IS,PeriNomS Study Group.

    更新日期:2016-07-01 00:00:00

  • Electrophysiological assessment of visual function in patients with non-arteritic ischaemic optic neuropathy.

    abstract:BACKGROUND AND PURPOSE:Our study aims to evaluate retinal function and neural conduction in post-retinal visual pathways of patients with non-arteritic ischaemic optic neuropathy (NION). METHODS:Twenty patients (mean age: 63.7 +/- 5.96 year) with NION and 20 age-similar control subjects were enrolled. Simultaneous rec...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2008.02200.x

    authors: Parisi V,Gallinaro G,Ziccardi L,Coppola G

    更新日期:2008-08-01 00:00:00

  • The distribution of cerebral microbleeds determines their association with arterial stiffness in non-cardioembolic acute stroke patients.

    abstract:BACKGROUND AND PURPOSE:Increased arterial stiffness causes vessel damage in the end-organs. Therefore small vessels in the brain may be susceptible to increased arterial stiffness. Cerebral microbleeds (CMBs) are topographically or pathophysiologically categorized as deep or infratentorial type and strictly lobar type....

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12332

    authors: Song TJ,Kim J,Kim YD,Nam HS,Lee HS,Nam CM,Heo JH

    更新日期:2014-03-01 00:00:00

  • Insulin-like growth factor-1 predicts cognitive functions at 2-year follow-up in early, drug-naïve Parkinson's disease.

    abstract:BACKGROUND AND PURPOSE:Cognitive impairment is common in Parkinson's disease (PD), even in the early stages. We aimed to assess the relationship between insulin-like growth factor-1 (IGF-1) and cognitive functions in early, drug-naïve patients with PD. METHODS:Serum IGF-1 was measured in 65 early, drug-naïve patients ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12137

    authors: Pellecchia MT,Santangelo G,Picillo M,Pivonello R,Longo K,Pivonello C,Vitale C,Amboni M,De Rosa A,Moccia M,Erro R,De Michele G,Santoro L,Colao A,Barone P

    更新日期:2014-05-01 00:00:00

  • Dimethyl fumarate-induced lymphocyte count drop is related to clinical effectiveness in relapsing-remitting multiple sclerosis.

    abstract:BACKGROUND AND PURPOSE:Dimethyl fumarate (DMF) causes a mean lymphocyte count drop of approximately 30% in relapsing-remitting multiple sclerosis (RRMS) patients. The relationship between this reduction and DMF effectiveness is controversial. The objective was to investigate if the decrease in absolute lymphocyte count...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14538

    authors: Tsantes E,Curti E,Ferraro D,Lugaresi A,Baldi E,Montepietra S,Immovilli P,Simone AM,Mancinelli L,Strumia S,Vitetta F,Foschi M,Ferri C,Ferrarini C,Sola P,Granella F

    更新日期:2021-01-01 00:00:00

  • Blood pressure levels in the acute phase after intracerebral hemorrhage are associated with mortality in young adults.

    abstract:BACKGROUND AND PURPOSE:Blood pressure (BP) levels in acute intracerebral hemorrhage (ICH) and mortality have not been thoroughly studied in the young. METHODS:The relationship between BP and mortality was assessed in consecutive patients with first-ever, non-traumatic acute ICH at ≤50 years of age, enrolled in the Hel...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.13662

    authors: Mustanoja S,Putaala J,Koivunen RJ,Surakka I,Tatlisumak T

    更新日期:2018-08-01 00:00:00

  • Seven novel mutations and four exon deletions in a collection of Norwegian patients with SPG4 hereditary spastic paraplegia.

    abstract::To establish the phenotypic variation and frequency of SPAST mutations or deletions in Norwegian patients with hereditary spastic paraplegia (HSP), we examined 59 unrelated patients with HSP and screened for DNA point mutations and microdeletions in SPG4. Forty-one had a familial history, 35 had a clear dominant inher...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2007.01861.x

    authors: Erichsen AK,Inderhaug E,Mattingsdal M,Eiklid K,Tallaksen CM

    更新日期:2007-07-01 00:00:00

  • Exploding Head Syndrome (a.k.a. Episodic Cranial Sensory Shock) responds to single-pulse TMS.

    abstract::We here present the case of a patient with a sleep disturbance attributed to the exploding head syndrome, recently redefined as 'episodic cranial sensory shock'. The patient, who suffered with concomitant migraine, was treated for headache prevention with daily single-pulse transcranial magnetic stimulation. Following...

    journal_title:European journal of neurology

    pub_type:

    doi:10.1111/ene.14747

    authors: Puledda F,Moreno-Ajona D,Goadsby PJ

    更新日期:2021-01-18 00:00:00

  • Activities in the Danish Year of the Brain 1997.

    abstract::In this paper we report about the Danish Year of the Brain 1997 because it may serve as a model for other countries. It was possible in Denmark to organize a very large scale effort which has been well received by the general public and which has significantly improved the image of the neurological disciplines. The re...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1046/j.1468-1331.1998.560619.x

    authors: Olesen J,Oberg G,Vestergaard P

    更新日期:1998-11-01 00:00:00

  • Intravenous thrombolysis for large vessel or distal occlusions presenting with mild stroke severity.

    abstract:BACKGROUND AND PURPOSE:We investigated the effectiveness of intravenous thrombolysis (IVT) in acute ischaemic stroke (AIS) patients with large vessel or distal occlusions and mild neurological deficits, defined as National Institutes of Health Stroke Scale scores < 6 points. METHODS:The primary efficacy outcome was 3-...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14199

    authors: Tsivgoulis G,Goyal N,Katsanos AH,Malhotra K,Ishfaq MF,Pandhi A,Frohler MT,Spiotta AM,Anadani M,Psychogios M,Maus V,Siddiqui A,Waqas M,Schellinger PD,Groen M,Krogias C,Richter D,Saqqur M,Garcia-Bermejo P,Mokin M,Le

    更新日期:2020-06-01 00:00:00

  • Chronic migraine in women is associated with insulin resistance: a cross-sectional study.

    abstract:BACKGROUND AND PURPOSE:Migraine is a common neurological disorder. It can be divided into episodic migraine (EM) and chronic migraine (CM), based on headache frequency. Some studies have shown that insulin sensitivity is impaired in migraine; moreover, hypertension, diabetes and obesity are common in patients with CM. ...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.12289

    authors: Fava A,Pirritano D,Consoli D,Plastino M,Casalinuovo F,Cristofaro S,Colica C,Ermio C,De Bartolo M,Opipari C,Lanzo R,Consoli A,Bosco D

    更新日期:2014-02-01 00:00:00

  • Cerebral vasomotor reactivity of bilateral severe carotid stenosis: is stroke unavoidable?

    abstract::We evaluated the cerebral hemodynamic features of severe bilateral carotid stenosis by assessing and comparing cerebral vasomotor reactivity (VMR) in the middle cerebral (MCA) and vertebral arteries (VA) by transcranial Doppler and the Diamox (1 g acetazolamide i.v.) test. VMR was evaluated by recording the percentage...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2006.01160.x

    authors: Gur AY,Bornstein NM

    更新日期:2006-02-01 00:00:00

  • No difference in efficacy of two different doses of intravenous immunoglobulins in MS: clinical and MRI assessment.

    abstract::We performed a double-blind, placebo-controlled study to evaluate the efficacy of low and high dose of intravenous immunoglobulins (IVIG) in relapsing/remitting (RR) multiple sclerosis (MS). Patients (n = 49) with clinical definite RR MS were randomly allocated to three groups and treated with 0.2 g/kg (n = 17) or 0.4...

    journal_title:European journal of neurology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1046/j.1468-1331.2002.00500.x

    authors: Lewańska M,Siger-Zajdel M,Selmaj K

    更新日期:2002-11-01 00:00:00

  • Multiple sclerosis and COVID-19: how many are at risk?

    abstract:BACKGROUND AND PURPOSE:The coronavirus disease 2019 (COVID-19) pandemic challenges neurologists in counseling multiple sclerosis (MS) patients with respect to their risk for and by severe acute respiratory syndrome coronavirus 2 and in guiding disease-modifying treatment (DMT). The objective was to determine the freque...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14555

    authors: Bsteh G,Bitschnau C,Hegen H,Auer M,Di Pauli F,Rommer P,Deisenhammer F,Berger T

    更新日期:2020-09-25 00:00:00

  • Serum neurofilament light chain at time of diagnosis is an independent prognostic factor of survival in amyotrophic lateral sclerosis.

    abstract:BACKGROUND AND PURPOSE:The prognostic value of serum neurofilament light chain (sNfL), a biomarker of neurodegeneration, compared to other prognostic factors of amyotrophic lateral sclerosis (ALS) at the time of diagnosis, remains unclear. METHODS:Sera from ALS patients were prospectively collected at the first diagno...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/ene.14063

    authors: Thouvenot E,Demattei C,Lehmann S,Maceski-Maleska A,Hirtz C,Juntas-Morales R,Pageot N,Esselin F,Alphandéry S,Vincent T,Camu W

    更新日期:2020-02-01 00:00:00

  • European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of paraproteinaemic demyelinating neuropathies: report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Socie

    abstract:BACKGROUND:Paraprotein-associated neuropathies have heterogeneous clinical, neurophysiological, neuropathological and haematological features. Objectives. To prepare evidence-based and consensus guidelines on the clinical management of patients with both a demyelinating neuropathy and a paraprotein (paraproteinaemic de...

    journal_title:European journal of neurology

    pub_type: 杂志文章

    doi:10.1111/j.1468-1331.2006.01467.x

    authors: European Federation of Neurological Societies.,Peripheral Nerve Society.,Hadden RD,Nobile-Orazio E,Sommer C,Hahn A,Illa I,Morra E,Pollard J,Hughes RA,Bouche P,Cornblath D,Evers E,Koski CL,Léger JM,Van den Bergh P,van Door

    更新日期:2006-08-01 00:00:00

  • The effects of interferon-beta on interleukin-10 in multiple sclerosis patients.

    abstract::The incidence of the neuropathological lesions and the severity of the clinical symptoms in multiple sclerosis (MS) are correlated with the amount of the transferred autoreactive T cells. The balance between the T helper 1 (Th1) and T helper 2 (Th2) cytokine phenotypes may affect the activity of the disease in MS pati...

    journal_title:European journal of neurology

    pub_type: 临床试验,杂志文章

    doi:10.1111/j.1468-1331.2004.00986.x

    authors: Ersoy E,Kuş CN,Sener U,Coker I,Zorlu Y

    更新日期:2005-03-01 00:00:00

  • A phase II-III trial of olesoxime in subjects with amyotrophic lateral sclerosis.

    abstract:BACKGROUND AND PURPOSE:To assess the efficacy and safety of olesoxime, a molecule with neuroprotective properties, in patients with amyotrophic lateral sclerosis (ALS) treated with riluzole. METHODS:A double-blind, randomized, placebo-controlled, multicenter trial of 18 months' duration was conducted in 512 subjects, ...

    journal_title:European journal of neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1111/ene.12344

    authors: Lenglet T,Lacomblez L,Abitbol JL,Ludolph A,Mora JS,Robberecht W,Shaw PJ,Pruss RM,Cuvier V,Meininger V,Mitotarget study group.

    更新日期:2014-03-01 00:00:00

  • Serial SFEMG studies of orbicularis oculi muscle after the first administration of botulinum toxin.

    abstract::Serial single fiber electromyography (SFEMG) examinations of orbicularis oculi muscle in patients with blepharospasm or hemifacial spasm treated with botulinum toxin injections were performed. The aim of the study was to evaluate the impairment of neuromuscular transmission, to follow reinnervation after botulinum tox...

    journal_title:European journal of neurology

    pub_type: 临床试验,杂志文章

    doi:10.1046/j.1468-1331.1999.640461.x

    authors: Bogucki A

    更新日期:1999-07-01 00:00:00