Literature DB >> 3668574

Sex-linked recessive congenital ataxia.

I D Young1, J R Moore, J H Tripp.   

Abstract

A family is reported in which three boys, two full brothers and a half brother, presented with marked delay in motor milestones, severe limb and truncal ataxia, nystagmus, speech delay and moderate global retardation. Autosomal recessive and sex linked recessive forms of cerebellar hypoplasia are reviewed and it is suggested that this family may have a rare, if not unique, form of sex-linked cerebellar ataxia.

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Year:  1987        PMID: 3668574      PMCID: PMC1032362          DOI: 10.1136/jnnp.50.9.1230

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN: 0022-3050            Impact factor:   10.154


  11 in total

1.  Evaluation of familial biochemically determined mental retardation in children, with special reference to aminoaciduria.

Authors:  R S PAINE
Journal:  N Engl J Med       Date:  1960-03-31       Impact factor: 91.245

2.  [2 Cases of cerebellar hypoplasia in the same family].

Authors:  C SARROUY; A RAFFI; N BOINEAU
Journal:  Arch Fr Pediatr       Date:  1957

3.  Unusual form of cerebellar ataxia with sex-linked inheritance.

Authors:  N MALAMUD; P COHEN
Journal:  Neurology       Date:  1958-04       Impact factor: 9.910

4.  Early familial cerebellar degeneration; report of 3 cases in one family.

Authors:  G A JERVIS
Journal:  J Nerv Ment Dis       Date:  1950-05       Impact factor: 2.254

5.  The dysequilibrium syndrome. A genetic study.

Authors:  G Sanner
Journal:  Neuropadiatrie       Date:  1973-12

6.  Symmetrical hypogenesis of the cerebellum.

Authors:  I Lesný
Journal:  Acta Neurol Scand       Date:  1970       Impact factor: 3.209

7.  Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.

Authors:  M Joubert; J J Eisenring; J P Robb; F Andermann
Journal:  Neurology       Date:  1969-09       Impact factor: 9.910

8.  A spinocerebellar degeneration with X-linked inheritance.

Authors:  P J Spira; J G McLeod; W A Evans
Journal:  Brain       Date:  1979-03       Impact factor: 13.501

9.  Congenital hydrocephalus and cerebellar agenesis.

Authors:  V M Riccardi; E S Marcus
Journal:  Clin Genet       Date:  1978-05       Impact factor: 4.438

10.  Autosomal recessive non-progressive ataxia with an early childhood debut.

Authors:  P H Kvistad; A Dahl; H Skre
Journal:  Acta Neurol Scand       Date:  1985-04       Impact factor: 3.209

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  3 in total

1.  X-linked sideroblastic anemia and ataxia: linkage to phosphoglycerate kinase at Xq13.

Authors:  W H Raskind; E Wijsman; R A Pagon; T C Cox; M J Bawden; B K May; T D Bird
Journal:  Am J Hum Genet       Date:  1991-02       Impact factor: 11.025

2.  MRI in cerebellar hypoplasia.

Authors:  N deSouza; R Chaudhuri; J Bingham; T Cox
Journal:  Neuroradiology       Date:  1994       Impact factor: 2.804

Review 3.  X-linked disorders with cerebellar dysgenesis.

Authors:  Ginevra Zanni; Enrico S Bertini
Journal:  Orphanet J Rare Dis       Date:  2011-05-15       Impact factor: 4.123

  3 in total

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