Literature DB >> 8370386

Regional cerebral blood flow in Angelman syndrome.

K Gücüyener1, N Gökçora, N Ilgin, N Buyan, A Sayli.   

Abstract

A patient with typical features of Angelman syndrome--a genetically inherited disorder involving developmental delay, ataxia, episodes of paroxysmal laughter and brachiocephaly--was studied with single-photon emission tomography. Hypoperfusion found in the left frontal and left temporoparietal regions can provide insights into the functional cerebral pathology, which may be due to a disturbance of the developmental process related to a chromosomal abnormality.

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Year:  1993        PMID： 8370386     DOI： 10.1007/bf00176561

Source DB:  PubMed          Journal:  Eur J Nucl Med        ISSN： 0340-6997


  11 in total

1.  Angelman's syndrome in infancy.

Authors:  K A Yamada; J J Volpe
Journal:  Dev Med Child Neurol       Date:  1990-11       Impact factor: 5.449

2.  Progressive language disorder due to lobar atrophy.

Authors:  J S Snowden; D Neary; D M Mann; P J Goulding; H J Testa
Journal:  Ann Neurol       Date:  1992-02       Impact factor: 10.422

Review 3.  Angelman ("happy puppet") syndrome--seven new cases documented by cerebral computed tomography: review of the literature.

Authors:  A Dörries; H L Spohr; J Kunze
Journal:  Eur J Pediatr       Date:  1988-12       Impact factor: 3.183

4.  The "happy puppet" syndrome in two siblings.

Authors:  Y Kuroki; I Matsui; Y Yamamoto; A Ieshima
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

5.  The Angelman syndrome in two brothers.

Authors:  H M Pashayan; W Singer; C Bove; E Eisenberg; B Seto
Journal:  Am J Med Genet       Date:  1982-11

6.  Regional brain blood flow in congenital dysphasia: studies with technetium-99m HM-PAO SPECT.

Authors:  R Denays; M Tondeur; M Foulon; F Verstraeten; H Ham; A Piepsz; P Noël
Journal:  J Nucl Med       Date:  1989-11       Impact factor: 10.057

7.  Autism and pervasive developmental disorders: concepts and diagnostic issues.

Authors:  M Rutter; E Schopler
Journal:  J Autism Dev Disord       Date:  1987-06

8.  Clinical heterogeneity associated with deletions in the long arm of chromosome 15: report of 3 new cases and their possible genetic significance.

Authors:  L C Kaplan; R Wharton; E Elias; F Mandell; T Donlon; S A Latt
Journal:  Am J Med Genet       Date:  1987-09

9.  The EEG in early diagnosis of the Angelman (happy puppet) syndrome.

Authors:  S G Boyd; A Harden; M A Patton
Journal:  Eur J Pediatr       Date:  1988-06       Impact factor: 3.183

10.  Childhood epileptic encephalopathy with diffuse slow spike-waves (otherwise known as "petit mal variant") or Lennox syndrome.

Authors:  H Gastaut; J Roger; R Soulayrol; C A Tassinari; H Régis; C Dravet; R Bernard; N Pinsard; M Saint-Jean
Journal:  Epilepsia       Date:  1966-06       Impact factor: 6.740
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