[Myotonic dystrophy: study of clinico-genetic correlation in a pair of relatives (father-son)].

Abstract:

:We report the case of a child with myotonic dystrophy (DM) with symptoms beginning at the age of seven, whose genetic study showed an additional DNA fragment, greater than of his father, an asymptomatic carrier. The clinical and molecular analysis of this parent-child pair are probably the first described in Brazil, since the recent discovery of genetic abnormality in DM by American and European researchers, that explained the long-debated phenomenon of "anticipation" in this disease. The main advances in molecular genetics in DM and its correlation with increasing severity and earlier onset of the symptoms in successive generations of a family are commented briefly.

journal_name

Arq Neuropsiquiatr

authors

Reed UC,Passos-Bueno MR,Nagahashi-Marie SK,Cerqueira A,Mendonça LI,Levy JA,Diament A,Zatz M

doi

10.1590/s0004-282x1994000400015

subject

Has Abstract

pub_date

1994-12-01 00:00:00

pages

545-8

issue

4

eissn

0004-282X

issn

1678-4227

journal_volume

52

pub_type

杂志文章
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  • [Unilateral papilledema in pseudotumor cerebri].

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  • [Familial hemifacial spasm: report of 2 cases].

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    journal_title:Arquivos de neuro-psiquiatria

    pub_type: 杂志文章

    doi:10.1590/s0004-282x1998000100018

    authors: Barbosa ER,da Costa Mdo D,Staut CC,Bacheschi LA,Bittar MS

    更新日期:1998-03-01 00:00:00

  • The poor insane Ophelia: reconsidering Ophelia syndrome.

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  • Safety of transcranial direct current stimulation in a patient with deep brain stimulation electrodes.

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  • Post-poliomyelitis syndrome: case report.

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    pub_type: 杂志文章

    doi:10.1590/s0004-282x2007000300033

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    更新日期:2007-06-01 00:00:00

  • Complex phonic tic and disinhibition in Tourette syndrome: case report.

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    authors: Maia DP,Cardoso F

    更新日期:2001-09-01 00:00:00

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    pub_type: 杂志文章,评审

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  • Désiré-Magloire Bourneville and his contributions to pediatric neurology.

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    journal_title:Arquivos de neuro-psiquiatria

    pub_type: 传,历史文章,杂志文章

    doi:10.1590/0004-282X20190009

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  • [Growth hormone deficiency after treatment of medulloblastoma with radiotherapy in childhood: case report].

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    authors: Goldberg TB,Rodrigues MA,Takata RT,Nogueira CR,Faleiros AT

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  • [Metopic suture craniosynostosis: sodium valproate teratogenic effect. Case report].

    abstract:OBJECTIVE:the aim of this report is to warn that sodium valproate used during pregnancy can produce craniosynostosis in the newborn, particularly trigonocephaly. METHOD:we describe a case of trigonocephaly in a six month-old girl, daughter of a young non-smoker couple, whose mother had used phenobarbital 100 mg daily ...

    journal_title:Arquivos de neuro-psiquiatria

    pub_type: 杂志文章

    doi:

    authors: Assencio-Ferreira VJ,Abraham R,Veiga JC,Santos KC

    更新日期:2001-06-01 00:00:00

  • [Ventriculoperitoneal shunt infections in children and adolescents with hydrocephalus].

    abstract:OBJECTIVE:To determine frequency, etiology, site and clinical and laboratory findings of ventriculoperitoneal shunt (VPS) infections in children and adolescents with hydrocephalus managed in Hospital Governador João Alves Filho, Aracaju SE, Brazil. METHOD:A non-controlled prospective observational study comprising 50 ...

    journal_title:Arquivos de neuro-psiquiatria

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    doi:10.1590/s0004-282x2007000100024

    authors: Lima MM,Pereira CU,Silva AM

    更新日期:2007-03-01 00:00:00

  • Frontopolar and anterior temporal cortex activation in a moral judgment task: preliminary functional MRI results in normal subjects.

    abstract:OBJECTIVE:To study the brain areas which are activated when normal subjects make moral judgments. METHOD:Ten normal adults underwent BOLD functional magnetic resonance imaging (fMRI) during the auditory presentation of sentences that they were instructed to silently judge as either "right" or "wrong". Half of the sent...

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    doi:10.1590/s0004-282x2001000500001

    authors: Moll J,Eslinger PJ,Oliveira-Souza R

    更新日期:2001-09-01 00:00:00

  • [Clinical trial with a new anti-epileptic: barbexaclone].

    abstract::A new anti-epileptic agent (barbexaclone) was tried in 48 patients suffering from epilepsy and presenting a total of 67 types of crises. All the patients were considered "bad cases" because either by the intensity of the epileptic manifestations or by their refractoriness to the usual medications. The results, similar...

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  • Rescue therapy with stent retrievers for thromboembolism during endovascular treatment of intracranial aneurysms.

    abstract::Thromboembolism is the most frequent complication in endovascular treatment of intracranial aneurysms, causing disability and death. As stent retrievers have achieved high rates of arterial recanalization in the management of ischemic stroke, these devices were tested as rescue therapy of thromboembolism during aneury...

    journal_title:Arquivos de neuro-psiquiatria

    pub_type: 杂志文章

    doi:10.1590/0004-282X20180027

    authors: Demartini Junior Z,Gatto LAM,Koppe GL,Oliveira TFVH,Francisco AN

    更新日期:2018-05-01 00:00:00

  • Alzheimer's disease qEEG: spectral analysis versus coherence. Which is the best measurement?

    abstract::There is evidence in electroencephalography that alpha, theta and delta band oscillations reflect cognitive and memory performances and that quantitative techniques can improve the electroencephalogram (EEG) sensitivity. This paper presents the results of comparative analysis of qEEG variables as reliable markers for ...

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    doi:10.1590/s0004-282x2011000700004

    authors: Anghinah R,Kanda PA,Lopes HF,Basile LF,Machado S,Ribeiro P,Velasques B,Sameshima K,Takahashi DY,Pinto LF,Caramelli P,Nitrini R

    更新日期:2011-12-01 00:00:00

  • [Saphenous vein graft bypass from the external carotid artery to the supraclinoid internal carotid artery to treat a giant aneurysm of the cavernous internal carotid: case report].

    abstract::Alternative surgical procedures to treat unclippable aneurysms of the intracavernous carotid artery include proximal vessel occlusion and trapping. Those techniques, even in patients with rich collateral vessels, are associated with risk of hemodynamic compromise and ischemic complications. Therefore, a safe treatment...

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    authors: Azevedo Filho H,Martins C,Carvalho A,Geraldo S,Grassi G,Cardoso C,Vilaça G,Rodrigues C

    更新日期:2001-03-01 00:00:00

  • Ventral extradural spinal meningeal cyst causing cord compression: neurosurgical treatment.

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    doi:10.1590/s0004-282x2005000500026

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    更新日期:2005-09-01 00:00:00

  • Translation and validation of Autism Diagnostic Interview-Revised (ADI-R) for autism diagnosis in Brazil.

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    更新日期:2012-03-01 00:00:00

  • Pulmonary involvement in patients with HTLV-I associated myelopathy.

    abstract::Pulmonary involvement in HTLV-I patients has been identified by several authors in Africa, Japan and Brazil. The objective of this controlled study is to establish an association between HAM and lymphocytosis in the bronchoalveolar fluid (BAL). Thirty-five adult patients with non-traumatic and non-tumoral myelopathy f...

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    pub_type: 杂志文章

    doi:10.1590/s0004-282x1995000500009

    authors: Mattos K,Melo A,Queiroz C,Publio L,Peçanha-Martins AC,Freitas V,Gomes I

    更新日期:1995-12-01 00:00:00

  • [Endolymphatic sac adenocarcinoma: case report].

    abstract::A case of endolymphatic sac adenocarcinoma is reported and the literature is reviewed. The clinical picture was presented by vertigo and progressive hearing loss caused by a tumor of the endolymphatic sac. The surgical removal was complete, via a retro and translabyrinthine approach. Endolymphatic sac tumors are local...

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    doi:

    authors: Silveira RL,Gusmão SS,Pittella JE,Santos SP

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  • Multiple sclerosis: disease modifying therapy and the human leukocyte antigen.

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  • [Edematous form of neurocysticercosis: report of 4 cases].

    abstract::Four cases of the oedematous form of neurocysticercosis are reported. This form is relatively rare and characterized by symptoms of intracranial hypertension and severe bilateral papilledema. Focal convulsive disorders are common. CSF studies show positive reaction for cysticercosis and ventriculography, the presence ...

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    doi:10.1590/s0004-282x1981000400009

    authors: Braga FM,Ferraz FA

    更新日期:1981-12-01 00:00:00

  • [Language impairment in the early stages of Alzheimer's disease].

    abstract::Alzheimer disease (AD) is usually associated with cognitive, language and behavioral impairments, which can get more and more serious as the disease progresses. The aim of this study is to verify language disorders in the early stages of this disease. Twelve patients meeting criteria for problable AD were evaluated by...

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    更新日期:2005-06-01 00:00:00

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    abstract::Thalamic hand is one of the clinical expressions of the painful thalamic syndrome. This paper relates on a case of a patient with a syndrome of central post-stroke and supra-thalamic pain who also presents a thalamic hand. The authors emphasize the notion that in the syndrome of central post-stroke pain a direct or in...

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    doi:10.1590/s0004-282x1992000100021

    authors: de Castro-Costa CM,do Vale OC,Siqueira Neto JI

    更新日期:1992-03-01 00:00:00