Literature DB >> 215818

[Connections between respiratory regulation and paradoxical sleep in a patient with Joubert's syndrome (author's transl)].

D Dralle, E Schmidt-Sommerfeld.   

Abstract

This study reports on eight patients whose cases have been described in literature, and two patients treated by the author, showing the typical signs of Joubert's syndrome. This disease pattern is characterised by episodic hyperpnoeas and apnoeas, retardation, muscular hypotension, opsoclonia, complete or partial agenesis of the vermiform process of cerebellum, as well as a dilated fourth ventricle. The clinical symptoms are compared with the characteristic signs of REM sleep and of cataplexy.

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Year:  1979        PMID: 215818

Source DB:  PubMed          Journal:  Klin Padiatr        ISSN: 0300-8630            Impact factor:   1.349


  6 in total

1.  [A rare form of optical, choroidal and retinal dysplasia combined with an occipital encephalocele].

Authors:  U Mayer; M Klinger; H D Rott
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

2.  The Joubert syndrome associated with bilateral chorioretinal coloboma.

Authors:  D Lindhout; P G Barth; J Valk; T N Boen-Tan
Journal:  Eur J Pediatr       Date:  1980-08       Impact factor: 3.183

3.  Joubert-Boltshauser syndrome with polydactyly in siblings.

Authors:  J Egger; M H Bellman; E M Ross; M Baraitser
Journal:  J Neurol Neurosurg Psychiatry       Date:  1982-08       Impact factor: 10.154

4.  Congenital muscular dystrophy and cerebellar vermis agenesis in two brothers.

Authors:  O Arancio; L G Bongiovanni; G Bonadonna; G Tomelleri; D De Grandis
Journal:  Ital J Neurol Sci       Date:  1988-10

5.  Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.

Authors:  M D King; J Dudgeon; J B Stephenson
Journal:  Arch Dis Child       Date:  1984-08       Impact factor: 3.791

6.  Purkinje cell degeneration elevates eupneic and hypercapnic ventilation in rats.

Authors:  Fadi Xu; Tongrong Zhou; Donald T Frazier
Journal:  Cerebellum       Date:  2004       Impact factor: 3.648

  6 in total

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